Associated disorders

The VPS37A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Hereditary spastic paraplegia 53 (SPG53) (MedGen UID: 761340).

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VPS37A is a rare cause of HSP, and the percentage of HSP attributed to pathogenic variants identified in VPS37A is unknown.

The VPS37A gene encodes the vacuolar protein sorting 37A protein, which is a component of the endosomal sorting complex required for transport (ESCRT) system. The ESCRT complex mediates the trafficking of ubiquinated proteins to endosomes and in zebrafish knockdown of VPS37A causes a decrease in mobility.

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
VPS37A NM_152415.2