ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.710G>A (p.Arg237His)

gnomAD frequency: 0.00004  dbSNP: rs774094300
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001298633 SCV001487696 uncertain significance Congenital disorder of glycosylation type Ir 2023-03-03 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1002236). This variant has not been reported in the literature in individuals affected with DDOST-related conditions. This variant is present in population databases (rs774094300, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 254 of the DDOST protein (p.Arg254His).
Baylor Genetics RCV001298633 SCV001524952 uncertain significance Congenital disorder of glycosylation type Ir 2019-12-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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