ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5266A>G (p.Ile1756Val)

gnomAD frequency: 0.00032  dbSNP: rs201257328
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823824 SCV000964694 likely benign Primary ciliary dyskinesia 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000823824 SCV003911420 uncertain significance Primary ciliary dyskinesia 2022-12-18 criteria provided, single submitter clinical testing The p.I1756V variant (also known as c.5266A>G), located in coding exon 30 of the DNAH11 gene, results from an A to G substitution at nucleotide position 5266. The isoleucine at codon 1756 is replaced by valine, 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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