ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.11974G>C (p.Asp3992His) (rs143251480)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214511 SCV000271687 uncertain significance not specified 2015-09-02 criteria provided, single submitter clinical testing The p.Asp3992His variant in DNAH5 has not been previously reported in individual s with pulmonary disease but has been identified in 13/66664 European chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; rs1 43251480). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Asp3992His variant is uncertain.
Invitae RCV000541309 SCV000624203 likely benign Primary ciliary dyskinesia 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000666941 SCV000791318 uncertain significance Ciliary dyskinesia, primary, 3 2017-05-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000666941 SCV001314191 uncertain significance Ciliary dyskinesia, primary, 3 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.

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