ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.955G>A (p.Val319Met)

gnomAD frequency: 0.00004  dbSNP: rs921210147
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219925 SCV001391891 uncertain significance Congenital disorder of glycosylation type Ir 2021-11-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 336 of the DDOST protein (p.Val336Met). 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: 948627). This variant has not been reported in the literature in individuals affected with DDOST-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%).

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