ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.596C>T (p.Thr199Met)

gnomAD frequency: 0.00051  dbSNP: rs142593688
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700383 SCV000829135 uncertain significance Congenital disorder of glycosylation type Ir 2023-06-14 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 216 of the DDOST protein (p.Thr216Met). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 577586). This variant has not been reported in the literature in individuals affected with DDOST-related conditions. This variant is present in population databases (rs142593688, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant.
Fulgent Genetics, Fulgent Genetics RCV000700383 SCV002780513 uncertain significance Congenital disorder of glycosylation type Ir 2022-01-06 criteria provided, single submitter clinical testing

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