ClinVar Miner

Submissions for variant NM_032957.4(RTEL1):c.2332C>T (p.Arg778Ter) (rs377024903)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667829 SCV000792334 likely pathogenic Dyskeratosis congenita, autosomal recessive, 5 2017-06-14 criteria provided, single submitter clinical testing
Invitae RCV001384643 SCV001584215 pathogenic Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 2020-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg754*) in the RTEL1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RTEL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 552546). Loss-of-function variants in RTEL1 are known to be pathogenic (PMID: 23453664, 23959892, 25607374). For these reasons, this variant has been classified as Pathogenic.

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