ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu) (rs142585703)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204475 SCV000260284 likely benign Primary ciliary dyskinesia 2020-10-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000204475 SCV000468230 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000659071 SCV000780880 likely benign not provided 2017-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000659071 SCV000860432 uncertain significance not provided 2018-03-15 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000856671 SCV000999216 uncertain significance Ciliary dyskinesia, primary, 7 2019-05-08 criteria provided, single submitter clinical testing This DNAH11 variant (rs142585703) has been identified in large population datasets 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 a subpopulation (gnomAD global frequency: 379/280652 alleles; 0.1350%, no homozygotes). There are conflicting interpretations of the pathogenicity of this variant in ClinVar. Two submitters classified it as benign, one as likely benign and two as a variant of uncertain clinical significance. Two bioinformatic tools queried predict that this substitution would be probably damaging, and the proline residue at this position is evolutionarily conserved across most species assessed. Bioinformatic analysis predicts that this missense variant would not affect normal exon 77 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence that this variant is deleterious, the clinical significance of c.12632C>T is uncertain at this time.
Baylor Genetics RCV000856671 SCV001524003 uncertain significance Ciliary dyskinesia, primary, 7 2019-03-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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