ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.635C>T (p.Pro212Leu)

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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 RCV002634756 SCV002960720 uncertain significance Congenital disorder of glycosylation type Ir 2022-08-22 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with DDOST-related conditions. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 229 of the DDOST protein (p.Pro229Leu). This variant is present in population databases (rs765199287, gnomAD 0.03%).

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