Associated disorders

The VAMP1 gene is associated with autosomal dominant hereditary spastic ataxia 1 (SPAX1) (MedGen UID: 409988).

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Invitae tests that include this gene:

VAMP1 is a rare cause of HSP, and the percentage of HSP attributed to pathogenic variants identified in VAMP1 is unknown.

The VAMP1 gene encodes the vesicle associated membrane protein 1. This protein functions in the exocytosis of synaptic vesicles, and Vamp1-null mice have numerous neurological defects.

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
VAMP1 NM_014231.3