ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.397G>A (p.Glu133Lys)

dbSNP: rs1398227497
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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 RCV001226327 SCV001398638 uncertain significance MHC class II deficiency 2019-07-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 133 of the CIITA protein (p.Glu133Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CIITA-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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