ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter)

dbSNP: rs1555813144
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666445 SCV000790738 likely pathogenic Dyskeratosis congenita, autosomal recessive 5 2017-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767949 SCV004589756 pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-03-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 551394). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. This sequence change creates a premature translational stop signal (p.Lys961*) 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). This variant is not present in population databases (gnomAD no frequency).

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