ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2229G>T (p.Lys743Asn)

dbSNP: rs2144735743
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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 RCV002033785 SCV002283241 uncertain significance MHC class II deficiency 2021-03-25 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but 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 lysine with asparagine at codon 743 of the CIITA protein (p.Lys743Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine.

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