ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5296G>A (p.Glu1766Lys)

gnomAD frequency: 0.00004  dbSNP: rs371235859
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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 RCV000534716 SCV000624137 benign Primary ciliary dyskinesia 2023-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000534716 SCV005109635 uncertain significance Primary ciliary dyskinesia 2024-05-10 criteria provided, single submitter clinical testing The c.5296G>A (p.E1766K) alteration is located in exon 30 (coding exon 30) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 5296, causing the glutamic acid (E) at amino acid position 1766 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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