ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr)

gnomAD frequency: 0.00168  dbSNP: rs142372794
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215582 SCV000270140 likely benign not specified 2016-01-14 criteria provided, single submitter clinical testing p.Ala4059Thr in exon 74 of DNAH11: This variant is not expected to have clinical significance because it has been identified in 0.4% (41/9722) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs142372794).
PreventionGenetics, part of Exact Sciences RCV000215582 SCV000307442 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000536515 SCV000624094 likely benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001162552 SCV001324509 uncertain significance Primary ciliary dyskinesia 7 2018-01-12 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 RCV000536515 SCV002661352 benign Primary ciliary dyskinesia 2015-08-26 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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