ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2098C>T (p.Arg700Trp)

gnomAD frequency: 0.00001  dbSNP: rs1003156687
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001263480 SCV001441562 uncertain significance Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2020-10-17 criteria provided, single submitter clinical testing This RTEL1 variant (rs1003156687) is rare (<0.1%) in a large population dataset (gnomAD: 2/277972 total alleles; 0.0007%; no homozygotes) and has not been reported in ClinVar nor the literature, to our knowledge. Three bioinformatic tools queried predict that this substitution would be damaging, and the arginine residue at this position is highly evolutionarily conserved across most species assessed. Due to insufficient evidence that this variant is deleterious, we consider the clinical significance of c.2098C>T to be uncertain at this time.
Ambry Genetics RCV004960666 SCV005492760 uncertain significance Inborn genetic diseases 2024-12-01 criteria provided, single submitter clinical testing The p.R700W variant (also known as c.2098C>T), located in coding exon 23 of the RTEL1 gene, results from a C to T substitution at nucleotide position 2098. The arginine at codon 700 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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