ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4318G>C (p.Val1440Leu)

gnomAD frequency: 0.00001  dbSNP: rs753773546
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690805 SCV000818532 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764700 SCV000895834 uncertain significance Primary ciliary dyskinesia 7 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000690805 SCV002633223 uncertain significance Primary ciliary dyskinesia 2024-04-19 criteria provided, single submitter clinical testing The p.V1440L variant (also known as c.4318G>C), located in coding exon 24 of the DNAH11 gene, results from a G to C substitution at nucleotide position 4318. The valine at codon 1440 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not 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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