ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs)

dbSNP: rs1363658406
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812646 SCV000952966 pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-08-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. 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.Arg1264) have been determined to be pathogenic (PMID: 23453664, 24009516, 25047097, 25099625, 25620558, 26025130). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 656263). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Ala1240Argfs*21) in the RTEL1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 61 amino acid(s) of the RTEL1 protein. The RTEL1 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001283009.1, and corresponds to NM_032957.4:c.3724+63_3724+64delTC in the primary transcript.
Fulgent Genetics, Fulgent Genetics RCV000812646 SCV002811747 likely pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-04-04 criteria provided, single submitter clinical testing

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