ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.709C>T (p.Arg237Cys)

gnomAD frequency: 0.00001  dbSNP: rs748804145
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001906073 SCV002161518 uncertain significance Congenital disorder of glycosylation type Ir 2021-12-24 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with DDOST-related conditions. This variant is present in population databases (rs748804145, gnomAD 0.005%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 254 of the DDOST protein (p.Arg254Cys).

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