ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7258C>A (p.Gln2420Lys)

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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 RCV003536366 SCV004368169 likely benign Primary ciliary dyskinesia 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003536366 SCV004857348 uncertain significance Primary ciliary dyskinesia 2023-12-28 criteria provided, single submitter clinical testing The c.7258C>A (p.Q2420K) alteration is located in exon 44 (coding exon 44) of the DNAH11 gene. This alteration results from a C to A substitution at nucleotide position 7258, causing the glutamine (Q) at amino acid position 2420 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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