ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.2213C>T (p.Ala738Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002954180 SCV003280191 uncertain significance MHC class I deficiency 2022-03-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 798 of the TAP1 protein (p.Ala798Val). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with TAP1-related conditions. 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. 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.
Ambry Genetics RCV002954181 SCV003730846 uncertain significance Inborn genetic diseases 2022-01-03 criteria provided, single submitter clinical testing The c.2393C>T (p.A798V) alteration is located in exon 11 (coding exon 11) of the TAP1 gene. This alteration results from a C to T substitution at nucleotide position 2393, causing the alanine (A) at amino acid position 798 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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