ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2050A>T (p.Ser684Cys)

gnomAD frequency: 0.00005  dbSNP: rs367670668
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000348500 SCV000468062 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000348500 SCV003498430 benign Primary ciliary dyskinesia 2023-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000348500 SCV003983802 uncertain significance Primary ciliary dyskinesia 2024-05-12 criteria provided, single submitter clinical testing The p.S684C variant (also known as c.2050A>T), located in coding exon 12 of the DNAH11 gene, results from an A to T substitution at nucleotide position 2050. The serine at codon 684 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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