ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.245A>G (p.Lys82Arg)

gnomAD frequency: 0.00001  dbSNP: rs201235100
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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 RCV001269407 SCV001449483 uncertain significance Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2020-11-16 criteria provided, single submitter clinical testing This PARN 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 tolerated, while one predicts that it would be possibly damaging. The lysine residue at this position is highly evolutionarily conserved across most species assessed. We consider the clinical significance of c.245A>G to be uncertain at this time.

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