ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3437C>G (p.Pro1146Arg)

dbSNP: rs749331637
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001254619 SCV001430637 uncertain significance Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2020-06-10 criteria provided, single submitter clinical testing This RTEL1 variant is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. Three bioinformatic tools queried predict that this substitution would be tolerated, and the proline residue at this position is poorly evolutionarily conserved across all species assessed. Due to insufficient evidence, we consider the clinical significance of c.3437C>G to be uncertain at this time.

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