Associated disorders

The SEPN1 gene is associated with autosomal recessive multiminicore disease (MmD) (MedGen UID: 388775) and autosomal recessive congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177).

Order single gene


Order this gene as a single gene test.

SEPN1: Analysis includes the NM_20451.2:c.*1107T>C variant in the 3' UTR.

Order a test

Invitae tests that include this gene:

Pathogenic variants in SEPN1 have been estimated to cause between 30-50% of clinical cases of MmD.

SEPN1 encodes selenoprotein 1, a member of the selenium-containing protein family which functions to transport selenium. Selenium is incorporated into the SEPN1 protein as an unusual amino acid, selenocysteine. Selenocysteine is encoded by two TGA codons, one in exon 3 at codon 127 and another in exon 10 at codon 462. Reprogramming the normal TGA stop codons to instead encode selenocystein requires a secondary structure (selenocystein insertion sequence) present in the 3’ UTR of the SEPN1 mRNA.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
SEPN1* NM_020451.2

*SEPN1: Analysis includes the NM_20451.2:c.*1107T>C variant in the 3' UTR.