ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2579C>T (p.Ala860Val)

gnomAD frequency: 0.00016  dbSNP: rs200459876
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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 RCV000805952 SCV000945928 benign Primary ciliary dyskinesia 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000805952 SCV002739136 uncertain significance Primary ciliary dyskinesia 2023-09-27 criteria provided, single submitter clinical testing The p.A860V variant (also known as c.2579C>T), located in coding exon 14 of the DNAH11 gene, results from a C to T substitution at nucleotide position 2579. The alanine at codon 860 is replaced by valine, 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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