ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3143G>A (p.Gly1048Glu)

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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 RCV003229796 SCV003927245 uncertain significance Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-03-09 criteria provided, single submitter clinical testing This RTEL1 missense variant is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be tolerated, and the glycine residue at this position is evolutionarily conserved across a few species assessed, while several species have a different amino acid at this position including one species with glutamic acid. We consider the clinical significance of c.3143G>A; p.Gly1048Glu in RTEL1 to be uncertain at this time.

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