ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.991G>A (p.Glu331Lys)

gnomAD frequency: 0.00006  dbSNP: rs550602612
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000461338 SCV000551735 benign Primary ciliary dyskinesia 2023-12-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001164926 SCV001327089 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.
GeneDx RCV001565535 SCV001788897 uncertain significance not provided 2019-05-06 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV000461338 SCV002688810 uncertain significance Primary ciliary dyskinesia 2022-04-04 criteria provided, single submitter clinical testing The p.E331K variant (also known as c.991G>A), located in coding exon 6 of the DNAH11 gene, results from a G to A substitution at nucleotide position 991. The glutamic acid at codon 331 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001164926 SCV002784259 uncertain significance Primary ciliary dyskinesia 7 2021-08-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001565535 SCV004223996 uncertain significance not provided 2023-05-24 criteria provided, single submitter clinical testing

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