ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.5539A>G (p.Arg1847Gly)

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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 RCV002634111 SCV003518410 likely benign Primary ciliary dyskinesia 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002634111 SCV005573220 uncertain significance Primary ciliary dyskinesia 2024-08-20 criteria provided, single submitter clinical testing The c.5539A>G (p.R1847G) alteration is located in exon 34 (coding exon 34) of the DNAH5 gene. This alteration results from a A to G substitution at nucleotide position 5539, causing the arginine (R) at amino acid position 1847 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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