ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.3109C>G (p.His1037Asp)

gnomAD frequency: 0.00014  dbSNP: rs370878348
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806649 SCV000946659 benign Primary ciliary dyskinesia 2023-11-13 criteria provided, single submitter clinical testing
GeneDx RCV003151813 SCV003840433 uncertain significance not provided 2024-09-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV000806649 SCV004000310 uncertain significance Primary ciliary dyskinesia 2023-06-12 criteria provided, single submitter clinical testing The p.H1037D variant (also known as c.3109C>G), located in coding exon 16 of the DNAH11 gene, results from a C to G substitution at nucleotide position 3109. The histidine at codon 1037 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. 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.

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