ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter)

dbSNP: rs2090929102
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001230569 SCV001403053 pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2019-10-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RTEL1-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RTEL1 are known to be pathogenic (PMID: 23453664, 23959892, 25607374). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1057*) in the RTEL1 gene. It is expected to result in an absent or disrupted protein product.
GeneDx RCV003153953 SCV003842434 likely pathogenic not provided 2023-03-12 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25607374, 23453664, 23959892)
Baylor Genetics RCV003469409 SCV004209782 likely pathogenic Dyskeratosis congenita, autosomal recessive 5 2023-07-24 criteria provided, single submitter clinical testing

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