ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.806A>G (p.Asn269Ser)

gnomAD frequency: 0.00001  dbSNP: rs572376231
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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 RCV001916418 SCV002178016 uncertain significance MHC class I deficiency 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 269 of the TAP2 protein (p.Asn269Ser). This variant is present in population databases (rs572376231, gnomAD 0.02%). 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: 1410382). 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"). 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 RCV004681314 SCV005167603 uncertain significance Inborn genetic diseases 2024-05-13 criteria provided, single submitter clinical testing The c.806A>G (p.N269S) 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 806, causing the asparagine (N) at amino acid position 269 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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