ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.3344A>G (p.Glu1115Gly)

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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 RCV002760246 SCV003010759 likely benign Primary ciliary dyskinesia 2024-06-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002760246 SCV004857571 uncertain significance Primary ciliary dyskinesia 2023-12-26 criteria provided, single submitter clinical testing The c.3344A>G (p.E1115G) alteration is located in exon 22 (coding exon 22) of the DNAH5 gene. This alteration results from a A to G substitution at nucleotide position 3344, causing the glutamic acid (E) at amino acid position 1115 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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