ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.308T>C (p.Ile103Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002982283 SCV003288999 uncertain significance Congenital disorder of glycosylation type Ir 2023-07-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 120 of the DDOST protein (p.Ile120Thr). This variant is present in population databases (rs536192419, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with DDOST-related conditions. ClinVar contains an entry for this variant (Variation ID: 2074672). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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