ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr)

gnomAD frequency: 0.00001  dbSNP: rs766837403
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236454 SCV000293701 likely benign not provided 2022-01-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26100331, 25512093, 25609763)
Invitae RCV001085082 SCV001010551 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-10-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111363 SCV001268912 likely benign Autosomal dominant cerebellar ataxia 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV001085082 SCV001268913 likely benign Charcot-Marie-Tooth disease axonal type 2O 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251972 SCV001427718 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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