ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1334C>T (p.Ser445Phe)

dbSNP: rs769683724
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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 RCV000698085 SCV000826727 uncertain significance MHC class I deficiency 2024-02-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 445 of the TAP2 protein (p.Ser445Phe). This variant is present in population databases (rs769683724, gnomAD 0.006%). 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: 575772). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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