ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1232G>A (p.Gly411Glu)

gnomAD frequency: 0.00011  dbSNP: rs552249954
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001035660 SCV001198994 benign Primary ciliary dyskinesia 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001035660 SCV003724275 uncertain significance Primary ciliary dyskinesia 2021-08-16 criteria provided, single submitter clinical testing The c.1232G>A (p.G411E) alteration is located in exon 7 (coding exon 7) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 1232, causing the glycine (G) at amino acid position 411 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003145258 SCV003831694 uncertain significance Primary ciliary dyskinesia 7 2020-01-07 criteria provided, single submitter clinical testing
GeneDx RCV004726806 SCV005332098 uncertain significance not provided 2023-08-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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