ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.2071C>T (p.Arg691Trp)

gnomAD frequency: 0.00002  dbSNP: rs747716612
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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 RCV002014607 SCV002233412 uncertain significance MHC class I deficiency 2022-10-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TAP1-related conditions. This variant is present in population databases (rs747716612, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 751 of the TAP1 protein (p.Arg751Trp). ClinVar contains an entry for this variant (Variation ID: 1449798). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0").
Ambry Genetics RCV004681354 SCV005167599 uncertain significance Inborn genetic diseases 2024-05-16 criteria provided, single submitter clinical testing The c.2251C>T (p.R751W) 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 2251, causing the arginine (R) at amino acid position 751 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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