ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.278A>G (p.Asn93Ser)

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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 RCV002780820 SCV003024057 uncertain significance Congenital disorder of glycosylation type Ir 2023-07-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs772770995, gnomAD 0.006%). 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1985530). This variant has not been reported in the literature in individuals affected with DDOST-related conditions. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 110 of the DDOST protein (p.Asn110Ser).

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