ClinVar Miner

Submissions for variant NC_000020.10:g.(?_62309478)_(62324656_?)del

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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 RCV004579473 SCV005063474 pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-12-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the RTEL1 protein in which other variant(s) (p.Met492Ile) have been determined to be pathogenic (PMID: 19461895, 23453664, 23959892, 27418648). 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 RTEL1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 11-30 of the RTEL1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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