ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2570G>A (p.Arg857Gln)

gnomAD frequency: 0.00015  dbSNP: rs376572966
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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 RCV001245390 SCV001418675 benign Primary ciliary dyskinesia 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001245390 SCV003737729 uncertain significance Primary ciliary dyskinesia 2022-07-07 criteria provided, single submitter clinical testing The c.2570G>A (p.R857Q) alteration is located in exon 14 (coding exon 14) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 2570, causing the arginine (R) at amino acid position 857 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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