ClinVar Miner

Submissions for variant NM_147686.4(TRAF3IP2):c.761A>G (p.Asn254Ser)

gnomAD frequency: 0.00001  dbSNP: rs1463029619
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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 RCV001061602 SCV001226350 uncertain significance Candidiasis, familial, 8 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 254 of the TRAF3IP2 protein (p.Asn254Ser). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine 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: 856196). This variant has not been reported in the literature in individuals affected with TRAF3IP2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%).

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