ClinVar Miner

Submissions for variant NM_147686.4(TRAF3IP2):c.88G>A (p.Glu30Lys)

dbSNP: rs762683742
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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 RCV001055787 SCV001220194 uncertain significance Candidiasis, familial, 8 2022-08-16 criteria provided, single submitter clinical testing This variant is present in population databases (rs762683742, gnomAD 0.003%). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 851398). This variant has not been reported in the literature in individuals affected with TRAF3IP2-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 30 of the TRAF3IP2 protein (p.Glu30Lys).

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