ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1342G>A (p.Asp448Asn)

dbSNP: rs745691531
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001304119 SCV001493388 uncertain significance MHC class I deficiency 2023-08-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 448 of the TAP2 protein (p.Asp448Asn). This variant is not present in population databases (gnomAD no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1006997). This variant has not been reported in the literature in individuals affected with TAP2-related conditions.

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