ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1297A>G (p.Met433Val)

gnomAD frequency: 0.00002  dbSNP: rs767342050
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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 RCV001035997 SCV001199337 uncertain significance MHC class I deficiency 2021-09-20 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 433 of the TAP2 protein (p.Met433Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with TAP2-related conditions. 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"). 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 RCV003259034 SCV003983019 uncertain significance Inborn genetic diseases 2023-05-22 criteria provided, single submitter clinical testing The c.1297A>G (p.M433V) alteration is located in exon 8 (coding exon 7) of the TAP2 gene. This alteration results from a A to G substitution at nucleotide position 1297, causing the methionine (M) at amino acid position 433 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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