ClinVar Miner

Submissions for variant NM_152415.3(VPS37A):c.577G>T (p.Ala193Ser)

dbSNP: rs374964443
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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 RCV000691108 SCV000818851 uncertain significance Hereditary spastic paraplegia 53 2018-02-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 193 of the VPS37A protein (p.Ala193Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with VPS37A-related disease. This variant is not present in population databases (ExAC no frequency).

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