ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1909C>A (p.Leu637Ile)

gnomAD frequency: 0.00003  dbSNP: rs752068310
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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 RCV000556495 SCV000642017 uncertain significance MHC class I deficiency 2017-06-13 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on TAP2 function. The available evidence is currently insufficient to determine its role 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with a TAP2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with isoleucine at codon 637 of the TAP2 protein (p.Leu637Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine.

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