ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2924G>A (p.Gly975Asp)

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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 RCV002282760 SCV002570279 uncertain significance Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-03-19 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. Of three bioinformatics tools queried, two predict that the substitution would be damaging, while one predicts that it would be tolerated. The glycine residue at this position is evolutionarily conserved across many of the species assessed, and aspartic acid at this codon is present in two species. We consider the clinical significance of RTEL1 c.2924G>A to be uncertain at this time.

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