ClinVar Miner

Submissions for variant NM_147686.4(TRAF3IP2):c.1063C>G (p.Pro355Ala)

gnomAD frequency: 0.00001  dbSNP: rs760916707
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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 RCV001322761 SCV001513648 uncertain significance Candidiasis, familial, 8 2020-07-09 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 355 of the TRAF3IP2 protein (p.Pro355Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs760916707, ExAC 0.005%). This variant has not been reported in the literature in individuals with TRAF3IP2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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