ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.50C>T (p.Ala17Val)

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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 RCV003109058 SCV003783570 uncertain significance MHC class I deficiency 2022-07-15 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: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with TAP2-related conditions. This variant is present in population databases (rs779204798, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 17 of the TAP2 protein (p.Ala17Val).
Ambry Genetics RCV003358131 SCV004077948 uncertain significance Inborn genetic diseases 2023-06-29 criteria provided, single submitter clinical testing The c.50C>T (p.A17V) alteration is located in exon 2 (coding exon 1) of the TAP2 gene. This alteration results from a C to T substitution at nucleotide position 50, causing the alanine (A) at amino acid position 17 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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