ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10372A>G (p.Met3458Val)

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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 RCV002967429 SCV003285625 benign Primary ciliary dyskinesia 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002967429 SCV003739786 uncertain significance Primary ciliary dyskinesia 2023-10-23 criteria provided, single submitter clinical testing The p.M3458V variant (also known as c.10372A>G), located in coding exon 64 of the DNAH11 gene, results from an A to G substitution at nucleotide position 10372. The methionine at codon 3458 is replaced by valine, 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.

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