ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2956del (p.Arg986fs)

dbSNP: rs1285014916
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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 RCV001868183 SCV002233907 pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-07-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 548700). This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg986Glufs*21) in the RTEL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RTEL1 are known to be pathogenic (PMID: 23453664, 23959892, 25607374).
Baylor Genetics RCV003465431 SCV004209780 likely pathogenic Dyskeratosis congenita, autosomal recessive 5 2024-03-04 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000662340 SCV000784704 not provided RTEL1-related disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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