ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.13385T>C (p.Ile4462Thr)

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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 RCV002387625 SCV002690391 uncertain significance Primary ciliary dyskinesia 2017-03-30 criteria provided, single submitter clinical testing The p.I4462T variant (also known as c.13385T>C), located in coding exon 77 of the DNAH5 gene, results from a T to C substitution at nucleotide position 13385. The isoleucine at codon 4462 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002387625 SCV004371507 likely benign Primary ciliary dyskinesia 2024-03-04 criteria provided, single submitter clinical testing

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