ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.345C>G (p.Phe115Leu) (rs1579598699)

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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 RCV001007599 SCV001167280 likely pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2019-09-19 criteria provided, single submitter clinical testing This TERT variant is absent from large population datasets and has not been reported in ClinVar nor the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be tolerated, however the phenylalanine residue at this position is highly evolutionarily conserved across mammals. This variant is considered likely pathogenic.

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