ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.115G>T (p.Ala39Ser)

gnomAD frequency: 0.00001  dbSNP: rs761472739
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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 RCV000700205 SCV000828953 uncertain significance MHC class I deficiency 2019-07-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 99 of the TAP1 protein (p.Ala99Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs761472739, ExAC 0.01%). 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 tolerated, 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 TAP1-related disease.

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