ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.427C>G (p.His143Asp)

dbSNP: rs2154534284
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001979031 SCV002225846 uncertain significance Congenital disorder of glycosylation type Ir 2022-11-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 160 of the DDOST protein (p.His160Asp). This variant has not been reported in the literature in individuals affected with DDOST-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1441109).

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