ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10379C>T (p.Thr3460Met)

dbSNP: rs573384750
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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 RCV002040668 SCV002300686 benign Primary ciliary dyskinesia 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002040668 SCV002700787 uncertain significance Primary ciliary dyskinesia 2017-02-07 criteria provided, single submitter clinical testing The p.T3460M variant (also known as c.10379C>T), located in coding exon 64 of the DNAH11 gene, results from a C to T substitution at nucleotide position 10379. The threonine at codon 3460 is replaced by methionine, an amino acid with similar properties. This amino acid position is 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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