ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.346C>G (p.Gln116Glu)

gnomAD frequency: 0.00001  dbSNP: rs374802008
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001164818 SCV001326968 uncertain significance Primary ciliary dyskinesia 7 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV002460132 SCV002618442 uncertain significance Primary ciliary dyskinesia 2021-06-25 criteria provided, single submitter clinical testing The p.Q116E variant (also known as c.346C>G), located in coding exon 1 of the DNAH11 gene, results from a C to G substitution at nucleotide position 346. The glutamine at codon 116 is replaced by glutamic acid, an amino acid with highly 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.
Invitae RCV002460132 SCV004677753 benign Primary ciliary dyskinesia 2024-01-12 criteria provided, single submitter clinical testing

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