ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2348A>C (p.Asp783Ala)

dbSNP: rs771514619
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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 RCV000802196 SCV000942014 uncertain significance MHC class II deficiency 2018-12-09 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CIITA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with alanine at codon 783 of the CIITA protein (p.Asp783Ala). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and alanine.

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