ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.883C>G (p.Leu295Val)

gnomAD frequency: 0.00001  dbSNP: rs1562335145
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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 RCV001065494 SCV001230453 uncertain significance MHC class I deficiency 2022-06-26 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 295 of the TAP2 protein (p.Leu295Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 859394). 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"). 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 RCV002554475 SCV003628643 uncertain significance Inborn genetic diseases 2024-09-02 criteria provided, single submitter clinical testing The c.883C>G (p.L295V) alteration is located in exon 5 (coding exon 4) of the TAP2 gene. This alteration results from a C to G substitution at nucleotide position 883, causing the leucine (L) at amino acid position 295 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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