ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.767A>G (p.Asp256Gly)

gnomAD frequency: 0.00037  dbSNP: rs140310179
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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 RCV001955969 SCV002224011 uncertain significance MHC class I deficiency 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 256 of the TAP2 protein (p.Asp256Gly). This variant is present in population databases (rs140310179, gnomAD 0.1%). 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: 1444705). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV003303478 SCV004007416 uncertain significance Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing The c.767A>G (p.D256G) alteration is located in exon 5 (coding exon 4) of the TAP2 gene. This alteration results from a A to G substitution at nucleotide position 767, causing the aspartic acid (D) at amino acid position 256 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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