ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5864T>A (p.Leu1955Gln)

gnomAD frequency: 0.00004  dbSNP: rs370052217
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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 RCV000459805 SCV000551749 likely benign Primary ciliary dyskinesia 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000459805 SCV004061390 uncertain significance Primary ciliary dyskinesia 2023-08-28 criteria provided, single submitter clinical testing The c.5864T>A (p.L1955Q) alteration is located in exon 34 (coding exon 34) of the DNAH11 gene. This alteration results from a T to A substitution at nucleotide position 5864, causing the leucine (L) at amino acid position 1955 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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