ClinVar Miner

Submissions for variant NM_001193315.2(VIPAS39):c.1003A>G (p.Thr335Ala)

dbSNP: rs867268041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329878 SCV001521429 uncertain significance Arthrogryposis, renal dysfunction, and cholestasis 2 2020-06-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546358 SCV003003387 uncertain significance not provided 2022-02-21 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 335 of the VIPAS39 protein (p.Thr335Ala). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with VIPAS39-related conditions. ClinVar contains an entry for this variant (Variation ID: 1028746). 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: "Deleterious"; 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.

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