ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.5_7del (p.Ala2del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003646411 SCV004428270 pathogenic Dyskeratosis congenita 2023-07-13 criteria provided, single submitter clinical testing This variant, c.5_7del, results in the deletion of 1 amino acid(s) of the DKC1 protein (p.Ala2del), but otherwise preserves the integrity of the reading frame. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the DKC1 protein in which other variant(s) (p.Ala2Val) have been determined to be pathogenic (PMID: 10364516, 11641517, 22664374, 33718801). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with DKC1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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