ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.1120A>T (p.Met374Leu)

dbSNP: rs779844691
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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 RCV000548264 SCV000642028 uncertain significance MHC class I deficiency 2018-11-01 criteria provided, single submitter clinical testing This variant is present in population databases (rs779844691, ExAC 0.001%). This variant has not been reported in the literature in individuals with TAP1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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. This sequence change replaces methionine with leucine at codon 434 of the TAP1 protein (p.Met434Leu). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and leucine.

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