ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4159G>A (p.Val1387Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003539309 SCV004354109 benign Primary ciliary dyskinesia 2023-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003539309 SCV005109599 uncertain significance Primary ciliary dyskinesia 2024-04-25 criteria provided, single submitter clinical testing The p.V1387I variant (also known as c.4159G>A), located in coding exon 23 of the DNAH11 gene, results from a G to A substitution at nucleotide position 4159. The valine at codon 1387 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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