ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp)

gnomAD frequency: 0.00107  dbSNP: rs140948493
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221456 SCV000271686 uncertain significance not specified 2015-02-10 criteria provided, single submitter clinical testing The p.Arg3813Trp variant in DNAH5 has been previously reported in 1 compound het erozygous child with primary ciliary dyskinesia (PCD) (Kim 2014). This variant h as also been identified in 0.24% (159/66720) of Non-Finnish European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSN P rs397515393). Computational prediction tools and conservation analysis sugges t that this variant may impact the protein, though this information is not predi ctive enough to determine pathogenicity. In summary, the clinical significance o f the p.Arg3813Trp variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000226887 SCV000287056 likely benign Primary ciliary dyskinesia 2024-01-30 criteria provided, single submitter clinical testing
Counsyl RCV000667684 SCV000792172 uncertain significance Primary ciliary dyskinesia 3 2017-06-19 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000667684 SCV001652840 uncertain significance Primary ciliary dyskinesia 3 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001589126 SCV001824599 uncertain significance not provided 2024-04-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19357118, 34426522, 24498942)
Ambry Genetics RCV000226887 SCV002618454 uncertain significance Primary ciliary dyskinesia 2016-10-19 criteria provided, single submitter clinical testing The p.R3813W variant (also known as c.11437C>T), located in coding exon 66 of the DNAH5 gene, results from a C to T substitution at nucleotide position 11437. The arginine at codon 3813 is replaced by tryptophan, an amino acid with dissimilar properties. This variant was identified in an adult with a history of neonatal respiratory distress, otitis media, bronchiectasis, sinusitis and outer dynein arm defects on electron microscopy. This individual was also heterozygous for a nonsense alteration in DNAH5; however, the phase of these alterations was not provided (Kim RH et al. Ann Am Thorac Soc, 2014 Mar;11:351-9). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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