ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.1136G>A (p.Arg379Gln)

gnomAD frequency: 0.00003  dbSNP: rs74526704
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001319603 SCV001510358 uncertain significance Congenital disorder of glycosylation type Ir 2020-02-16 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DDOST-related conditions. ClinVar contains an entry for this variant (Variation ID: 295076). This variant is present in population databases (rs74526704, ExAC 0.2%). This sequence change replaces arginine with glutamine at codon 396 of the DDOST protein (p.Arg396Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.
OMIM RCV001319603 SCV002520508 pathogenic Congenital disorder of glycosylation type Ir 2022-05-19 no assertion criteria provided literature only

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