ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1586C>G (p.Thr529Ser)

gnomAD frequency: 0.00010  dbSNP: rs183509559
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560090 SCV000624113 benign Primary ciliary dyskinesia 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000560090 SCV002705983 uncertain significance Primary ciliary dyskinesia 2018-09-17 criteria provided, single submitter clinical testing The p.T529S variant (also known as c.1586C>G), located in coding exon 8 of the DNAH11 gene, results from a C to G substitution at nucleotide position 1586. The threonine at codon 529 is replaced by serine, 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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