ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1292G>C (p.Gly431Ala)

gnomAD frequency: 0.00001  dbSNP: rs760924428
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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 RCV003069340 SCV003467615 uncertain significance MHC class I deficiency 2022-06-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 431 of the TAP2 protein (p.Gly431Ala). This variant is present in population databases (rs760924428, gnomAD 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with TAP2-related conditions.
Ambry Genetics RCV004963407 SCV005513156 uncertain significance Inborn genetic diseases 2024-09-30 criteria provided, single submitter clinical testing The c.1292G>C (p.G431A) alteration is located in exon 8 (coding exon 7) of the TAP2 gene. This alteration results from a G to C substitution at nucleotide position 1292, causing the glycine (G) at amino acid position 431 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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