Submissions for variant NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)

gnomAD frequency: 0.00137  dbSNP: rs117199211

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176470	SCV000228132	likely benign	not specified	2015-04-21	criteria provided, single submitter	clinical testing
Invitae	RCV000228589	SCV000287117	benign	Charcot-Marie-Tooth disease axonal type 2O	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000378222	SCV000385048	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	RCV000228589	SCV000385049	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc	RCV000176470	SCV000613173	benign	not specified	2017-07-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314618	SCV000847583	likely benign	Inborn genetic diseases	2016-06-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV001172911	SCV001335986	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
GeneDx	RCV001711598	SCV001944695	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001711598	SCV001961465	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	DYNC1H1: BP4, BP7, BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001711598	SCV004564960	benign	not provided	2023-09-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937593	SCV004749021	benign	DYNC1H1-related condition	2024-02-21	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).