ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.2167G>T (p.Gly723Trp)

dbSNP: rs768348425
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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 RCV001226336 SCV001398648 uncertain significance MHC class I deficiency 2019-07-19 criteria provided, single submitter clinical testing 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"). This variant has not been reported in the literature in individuals with TAP1-related conditions. This variant is present in population databases (rs768348425, ExAC 0.009%). This sequence change replaces glycine with tryptophan at codon 783 of the TAP1 protein (p.Gly783Trp). The glycine residue is weakly conserved and there is a large physicochemical difference between glycine and tryptophan.
Ambry Genetics RCV002563091 SCV003600117 uncertain significance Inborn genetic diseases 2022-01-19 criteria provided, single submitter clinical testing The c.2347G>T (p.G783W) alteration is located in exon 11 (coding exon 11) of the TAP1 gene. This alteration results from a G to T substitution at nucleotide position 2347, causing the glycine (G) at amino acid position 783 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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