ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.131G>A (p.Gly44Asp)

dbSNP: rs1056226386
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001300923 SCV001490074 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2022-09-12 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt VHL protein function. ClinVar contains an entry for this variant (Variation ID: 1004248). This variant has not been reported in the literature in individuals affected with VHL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 44 of the VHL protein (p.Gly44Asp).
Sema4, Sema4 RCV002258187 SCV002534137 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-01 criteria provided, single submitter curation
Ambry Genetics RCV002258187 SCV004000756 likely benign Hereditary cancer-predisposing syndrome 2023-05-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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