ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.331G>A (p.Val111Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002659559 SCV002984904 uncertain significance Congenital disorder of glycosylation type Ir 2022-08-31 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 tolerated. This variant has not been reported in the literature in individuals affected with DDOST-related conditions. This variant is present in population databases (rs781007641, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 128 of the DDOST protein (p.Val128Ile).

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