ClinVar Miner

Submissions for variant NM_001193315.2(VIPAS39):c.1226G>C (p.Arg409Pro)

dbSNP: rs200598365
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592799 SCV000709295 uncertain significance not provided 2017-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000592799 SCV003334991 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing 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: "Probably 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. ClinVar contains an entry for this variant (Variation ID: 502520). This variant has not been reported in the literature in individuals affected with VIPAS39-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 409 of the VIPAS39 protein (p.Arg409Pro).
Fulgent Genetics, Fulgent Genetics RCV005010588 SCV005635540 uncertain significance Arthrogryposis, renal dysfunction, and cholestasis 2 2024-05-31 criteria provided, single submitter clinical testing

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