ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2525G>T (p.Arg842Met)

gnomAD frequency: 0.00007  dbSNP: rs546817580
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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 RCV002117894 SCV002408762 benign Primary ciliary dyskinesia 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002117894 SCV002742067 uncertain significance Primary ciliary dyskinesia 2018-08-26 criteria provided, single submitter clinical testing The p.R842M variant (also known as c.2525G>T), located in coding exon 14 of the DNAH11 gene, results from a G to T substitution at nucleotide position 2525. The arginine at codon 842 is replaced by methionine, 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.

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