ClinVar Miner

Submissions for variant NM_005216.4(DDOST):c.206_211delACCGGG

dbSNP: rs769669810
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000342106 SCV000353689 uncertain significance Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV003530045 SCV004277115 uncertain significance Congenital disorder of glycosylation type Ir 2023-12-19 criteria provided, single submitter clinical testing This variant, c.206_211del, results in the deletion of 2 amino acid(s) of the DDOST protein (p.Asp69_Arg70del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs769669810, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DDOST-related conditions. ClinVar contains an entry for this variant (Variation ID: 295158). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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