Submissions for variant NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)

gnomAD frequency: 0.00096  dbSNP: rs139919955

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000369017	SCV000385056	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000545607	SCV000385057	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.
GeneDx	RCV001718640	SCV000517867	benign	not provided	2019-02-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000432732	SCV000594416	likely benign	not specified	2015-12-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000545607	SCV000651654	benign	Charcot-Marie-Tooth disease axonal type 2O	2024-01-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314051	SCV000848664	likely benign	Inborn genetic diseases	2017-01-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172867	SCV001335940	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002504079	SCV002811232	likely benign	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13	2021-08-06	criteria provided, single submitter	clinical testing