ClinVar Miner

Submissions for variant NM_001270974.2(HYDIN):c.11047C>T (p.Arg3683Trp)

gnomAD frequency: 0.00102  dbSNP: rs200260585
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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 RCV000853220 SCV000996032 uncertain significance Primary ciliary dyskinesia 5 2019-07-08 criteria provided, single submitter clinical testing This HYDIN variant (rs200260585) has been identified in a large population dataset and the minor allele frequency is neither low enough to consider the variant rare (<0.1%) nor high enough to consider it a population polymorphism (>1%) within the European (non-Finnish) subpopulation (gnomAD: 156/112840 alleles; 0.14%, no homozygotes). HYDIN c.11047C>T has not been reported in ClinVar nor the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be damaging, and the arginine residue at this position is highly evolutionarily conserved across most species assessed. The clinical significance of c.11047C>T is uncertain at this time.
Genetics and Molecular Pathology, SA Pathology RCV000853220 SCV002761372 uncertain significance Primary ciliary dyskinesia 5 2019-08-27 criteria provided, single submitter clinical testing

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