ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4926A>C (p.Lys1642Asn)

gnomAD frequency: 0.00003  dbSNP: rs770520414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001304980 SCV001494287 benign Primary ciliary dyskinesia 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001304980 SCV002641153 uncertain significance Primary ciliary dyskinesia 2022-05-24 criteria provided, single submitter clinical testing The p.K1642N variant (also known as c.4926A>C), located in coding exon 28 of the DNAH11 gene, results from an A to C substitution at nucleotide position 4926. The lysine at codon 1642 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. 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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