ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.13132G>A (p.Gly4378Ser)

gnomAD frequency: 0.00019  dbSNP: rs374818694
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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 RCV001348144 SCV001542432 benign Primary ciliary dyskinesia 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001348144 SCV003703941 uncertain significance Primary ciliary dyskinesia 2021-08-17 criteria provided, single submitter clinical testing The c.13132G>A (p.G4378S) alteration is located in exon 80 (coding exon 80) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 13132, causing the glycine (G) at amino acid position 4378 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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