ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.838C>T (p.Arg280Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002895186 SCV003245477 uncertain significance Congenital disorder of glycosylation type Ir 2023-08-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DDOST-related conditions. This variant is present in population databases (rs767525741, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 297 of the DDOST protein (p.Arg297Cys). ClinVar contains an entry for this variant (Variation ID: 2038749). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DDOST protein function.
Ambry Genetics RCV004065991 SCV004855131 uncertain significance not specified 2024-01-30 criteria provided, single submitter clinical testing The c.889C>T (p.R297C) alteration is located in exon 8 (coding exon 8) of the DDOST gene. This alteration results from a C to T substitution at nucleotide position 889, causing the arginine (R) at amino acid position 297 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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