ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1594C>T (p.Leu532Phe)

dbSNP: rs375800045
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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 RCV001221557 SCV001393610 uncertain significance MHC class II deficiency 2019-06-28 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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 leucine with phenylalanine at codon 532 of the CIITA protein (p.Leu532Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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