ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2342C>G (p.Ser781Trp)

dbSNP: rs13330686
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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 RCV002013866 SCV002299400 uncertain significance MHC class II deficiency 2021-09-03 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with CIITA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with tryptophan at codon 781 of the CIITA protein (p.Ser781Trp). The serine residue is weakly conserved and there is a large physicochemical difference between serine and tryptophan.

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