ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.851AGG[2] (p.Glu286del)

dbSNP: rs1557571295
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001925761 SCV002177622 uncertain significance Congenital disorder of glycosylation type Ir 2021-12-02 criteria provided, single submitter clinical testing This variant, c.908_910del, results in the deletion of 1 amino acid(s) of the DDOST protein (p.Glu303del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with DDOST-related conditions.

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