ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11458G>A (p.Val3820Ile)

gnomAD frequency: 0.00006  dbSNP: rs777011433
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054552 SCV001218872 benign Primary ciliary dyskinesia 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001759995 SCV001999181 uncertain significance not provided 2019-11-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV001054552 SCV002617891 uncertain significance Primary ciliary dyskinesia 2019-10-10 criteria provided, single submitter clinical testing The p.V3820I variant (also known as c.11458G>A), located in coding exon 70 of the DNAH11 gene, results from a G to A substitution at nucleotide position 11458. The valine at codon 3820 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well 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 alteration remains unclear.

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