ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.1297G>A (p.Ala433Thr)

gnomAD frequency: 0.00003  dbSNP: rs765383234
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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 RCV001933444 SCV002201976 uncertain significance MHC class I deficiency 2022-07-05 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1426651). This variant has not been reported in the literature in individuals affected with TAPBP-related conditions. This variant is present in population databases (rs765383234, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 433 of the TAPBP protein (p.Ala433Thr).
Ambry Genetics RCV004671538 SCV005167606 uncertain significance not specified 2024-05-14 criteria provided, single submitter clinical testing The c.1297G>A (p.A433T) alteration is located in exon 6 (coding exon 6) of the TAPBP gene. This alteration results from a G to A substitution at nucleotide position 1297, causing the alanine (A) at amino acid position 433 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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