ClinVar Miner

Submissions for variant NM_147686.4(TRAF3IP2):c.377C>A (p.Pro126His)

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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 RCV002786262 SCV003027814 uncertain significance Candidiasis, familial, 8 2021-12-21 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with TRAF3IP2-related conditions. This variant is present in population databases (rs778084382, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 126 of the TRAF3IP2 protein (p.Pro126His).

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