ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.3969A>G (p.Ile1323Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002375474 SCV002624489 uncertain significance Primary ciliary dyskinesia 2015-03-11 criteria provided, single submitter clinical testing The p.I1323M variant (also known as c.3969A>G), located in coding exon 21 of the DNAH11 gene, results from an A to G substitution at nucleotide position 3969. The isoleucine at codon 1323 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and methionine 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002375474 SCV004301245 likely benign Primary ciliary dyskinesia 2024-07-27 criteria provided, single submitter clinical testing

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