ClinVar Miner

Submissions for variant NM_152415.3(VPS37A):c.866G>A (p.Ser289Asn)

gnomAD frequency: 0.00001  dbSNP: rs376210724
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525624 SCV000652440 uncertain significance Hereditary spastic paraplegia 53 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 289 of the VPS37A protein (p.Ser289Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs376210724, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with VPS37A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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