ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5350A>G (p.Ile1784Val)

gnomAD frequency: 0.00001  dbSNP: rs764134388
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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 RCV000806482 SCV000946486 benign Primary ciliary dyskinesia 2023-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000806482 SCV004858293 uncertain significance Primary ciliary dyskinesia 2024-02-12 criteria provided, single submitter clinical testing The c.5350A>G (p.I1784V) alteration is located in exon 31 (coding exon 31) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 5350, causing the isoleucine (I) at amino acid position 1784 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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