ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.40G>T (p.Val14Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002323334 SCV002631438 uncertain significance Primary ciliary dyskinesia 2022-10-27 criteria provided, single submitter clinical testing The p.V14F variant (also known as c.40G>T), located in coding exon 1 of the DNAH5 gene, results from a G to T substitution at nucleotide position 40. The valine at codon 14 is replaced by phenylalanine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002323334 SCV004513854 benign Primary ciliary dyskinesia 2023-06-29 criteria provided, single submitter clinical testing

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