ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.698C>T (p.Pro233Leu)

gnomAD frequency: 0.00004  dbSNP: rs776376992
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788157 SCV000927179 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Invitae RCV001856221 SCV002137688 benign Primary ciliary dyskinesia 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001856221 SCV002664443 uncertain significance Primary ciliary dyskinesia 2015-08-24 criteria provided, single submitter clinical testing The p.P233L variant (also known as c.698C>T), located in coding exon 4 of the DNAH11 gene, results from a C to T substitution at nucleotide position 698. The proline at codon 233 is replaced by leucine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 5900 samples (11800 alleles) with coverage at this position. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Genetics and Molecular Pathology, SA Pathology RCV002466582 SCV002761591 uncertain significance Primary ciliary dyskinesia 7 2019-08-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002466582 SCV002782754 uncertain significance Primary ciliary dyskinesia 7 2021-10-07 criteria provided, single submitter clinical testing

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