ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2678C>T (p.Thr893Met)

gnomAD frequency: 0.00021  dbSNP: rs141717966
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651138 SCV000772988 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257911 SCV002533548 likely benign Dyskeratosis congenita 2021-02-07 criteria provided, single submitter curation
GeneDx RCV003327441 SCV004034773 uncertain significance not provided 2024-01-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Not observed in any cases, but was observed in unaffected controls from a melanoma study (PMID: 29641532); This variant is associated with the following publications: (PMID: 29641532)
Genetic Services Laboratory, University of Chicago RCV003151123 SCV003839999 uncertain significance not specified 2022-09-12 no assertion criteria provided clinical testing DNA sequence analysis of the RTEL1 gene demonstrated a sequence change, c.2750C>T, in exon 29 that results in an amino acid change, p.Thr917Met. This sequence change does not appear to have been previously described in patients with RTEL1-related disorders and has been described in the gnomAD database with a frequency of 0.3% in the Ashkenazi Jewish sub-population (dbSNP rs141717966). The p.Thr917Met change affects a poorly conserved amino acid residue located in a domain of the RTEL1 protein that is not known to be functional. The p.Thr917Met substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to the lack of functional studies, the clinical significance of the p.Thr917Met change remains unknown at this time.

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