ClinVar Miner

Submissions for variant NM_005216.5(DDOST):c.795-3C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003644798 SCV004526468 uncertain significance Congenital disorder of glycosylation type Ir 2023-11-06 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the DDOST gene. It does not directly change the encoded amino acid sequence of the DDOST protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs762134804, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DDOST-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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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