ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1085G>A (p.Cys362Tyr)

dbSNP: rs1323190950
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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 RCV001059481 SCV001224105 uncertain significance MHC class I deficiency 2019-03-08 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 362 of the TAP2 protein (p.Cys362Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TAP2-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: "Tolerated"; PolyPhen-2: Not Available; 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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