ClinVar Miner

Submissions for variant NM_147686.4(TRAF3IP2):c.16C>G (p.Pro6Ala)

dbSNP: rs1471659672
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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 RCV000821133 SCV000961877 uncertain significance Candidiasis, familial, 8 2018-10-14 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TRAF3IP2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with alanine at codon 6 of the TRAF3IP2 protein (p.Pro6Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. 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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