ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.179G>C (p.Arg60Pro)

gnomAD frequency: 0.00003  dbSNP: rs757349371
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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 RCV000476838 SCV000551737 benign Primary ciliary dyskinesia 2024-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000476838 SCV003731950 uncertain significance Primary ciliary dyskinesia 2021-11-08 criteria provided, single submitter clinical testing The c.179G>C (p.R60P) alteration is located in exon 1 (coding exon 1) of the DNAH11 gene. This alteration results from a G to C substitution at nucleotide position 179, causing the arginine (R) at amino acid position 60 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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