ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.3288G>A (p.Met1096Ile)

gnomAD frequency: 0.00023  dbSNP: rs575775297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232030 SCV000286995 benign Primary ciliary dyskinesia 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000232030 SCV002607022 uncertain significance Primary ciliary dyskinesia 2021-11-15 criteria provided, single submitter clinical testing The p.M1096I variant (also known as c.3288G>A), located in coding exon 17 of the DNAH11 gene, results from a G to A substitution at nucleotide position 3288. The methionine at codon 1096 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, isoleucine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003485566 SCV004234364 uncertain significance Primary ciliary dyskinesia 7 2023-02-09 criteria provided, single submitter clinical testing

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