ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.926C>A (p.Ala309Glu)

gnomAD frequency: 0.00004  dbSNP: rs772473192
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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 RCV001301101 SCV001490261 uncertain significance MHC class I deficiency 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 309 of the TAPBP protein (p.Ala309Glu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with TAPBP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1004402). 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 disruptive. 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.
Ambry Genetics RCV004867717 SCV005513168 uncertain significance not specified 2024-11-20 criteria provided, single submitter clinical testing The c.926C>A (p.A309E) alteration is located in exon 5 (coding exon 5) of the TAPBP gene. This alteration results from a C to A substitution at nucleotide position 926, causing the alanine (A) at amino acid position 309 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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