ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.39C>G (p.His13Gln)

dbSNP: rs2151826881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001543689 SCV001762386 uncertain significance Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2021-06-21 criteria provided, single submitter clinical testing PARN c.39C>G 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. The histidine residue at this position is evolutionarily conserved across most mammalian species assessed, however a glutamine is present in a subset of mammalian species. We consider the clinical significance of PARN c.39C>G to be uncertain at this time.
The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine RCV003325412 SCV003840214 pathogenic Telomere syndrome 2022-08-01 no assertion criteria provided clinical testing Classified as pathogenic based on segregation in a family with 2+ affected indiviudals with IPF/bone marrow failure and short telomere length and expert opinion

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