ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2374A>C (p.Ile792Leu)

dbSNP: rs762314534
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001363692 SCV001559815 likely benign Primary ciliary dyskinesia 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001363692 SCV002736980 uncertain significance Primary ciliary dyskinesia 2020-03-03 criteria provided, single submitter clinical testing The p.I792L variant (also known as c.2374A>C), located in coding exon 14 of the DNAH11 gene, results from an A to C substitution at nucleotide position 2374. The isoleucine at codon 792 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available 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.
Johns Hopkins Genomics, Johns Hopkins University RCV003485710 SCV004239091 uncertain significance Primary ciliary dyskinesia 7 2024-01-12 criteria provided, single submitter clinical testing This DNAH11 missense variant (rs762314534) is rare (<0.1%) in a large population dataset (gnomAD v4.0.0: 31/1613376 total alleles; 0.002%; 2 homozygotes). It has been reported in ClinVar (Variation ID 1055080), but has not been reported in the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be tolerated, and while the isoleucine residue at this position is evolutionarily conserved across a few of the species assessed, most species have a different amino acid including several with leucine. We consider the clinical significance of c.2374A>C in DNAH11 to be uncertain at this time.

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