ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1672G>A (p.Gly558Ser)

gnomAD frequency: 0.00001  dbSNP: rs759127287
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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 RCV002049302 SCV002108266 uncertain significance MHC class I deficiency 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 558 of the TAP2 protein (p.Gly558Ser). This variant is present in population databases (rs759127287, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with TAP2-related conditions. 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.

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