ClinVar Miner

Submissions for variant NM_152415.3(VPS37A):c.812A>G (p.Asp271Gly)

gnomAD frequency: 0.00002  dbSNP: rs768941323
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001348770 SCV001543085 uncertain significance Hereditary spastic paraplegia 53 2020-01-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 271 of the VPS37A protein (p.Asp271Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs768941323, ExAC 0.01%). This variant has not been reported in the literature in individuals with VPS37A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847250 SCV002105993 uncertain significance Hereditary spastic paraplegia 2019-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004877704 SCV005533930 uncertain significance not specified 2024-12-07 criteria provided, single submitter clinical testing The c.812A>G (p.D271G) alteration is located in exon 7 (coding exon 7) of the VPS37A gene. This alteration results from a A to G substitution at nucleotide position 812, causing the aspartic acid (D) at amino acid position 271 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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