ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.917A>G (p.Asn306Ser)

gnomAD frequency: 0.00042  dbSNP: rs764755742
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001890244 SCV002155548 uncertain significance Congenital disorder of glycosylation type Ir 2022-05-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1382384). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with DDOST-related conditions. This variant is present in population databases (rs764755742, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 323 of the DDOST protein (p.Asn323Ser).

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