ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.795G>A (p.Arg265=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003089442 SCV003475237 uncertain significance Congenital disorder of glycosylation type Ir 2023-01-10 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with DDOST-related conditions. This variant is present in population databases (rs201962457, gnomAD 0.01%). This sequence change affects codon 282 of the DDOST mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DDOST protein. It affects a nucleotide within the consensus splice site.
PreventionGenetics, part of Exact Sciences RCV003943769 SCV004760458 likely benign DDOST-related disorder 2020-05-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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