ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.737C>T (p.Pro246Leu)

gnomAD frequency: 0.00005  dbSNP: rs142416547
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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 RCV001308711 SCV001498180 uncertain significance MHC class I deficiency 2023-07-31 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1010980). This variant has not been reported in the literature in individuals affected with TAPBP-related conditions. This variant is present in population databases (rs142416547, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 246 of the TAPBP protein (p.Pro246Leu).
Ambry Genetics RCV004034179 SCV003659885 uncertain significance not specified 2021-12-07 criteria provided, single submitter clinical testing The c.737C>T (p.P246L) alteration is located in exon 4 (coding exon 4) of the TAPBP gene. This alteration results from a C to T substitution at nucleotide position 737, causing the proline (P) at amino acid position 246 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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