Submissions for variant NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)

gnomAD frequency: 0.00032  dbSNP: rs150888094

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194048	SCV000247216	likely benign	not specified	2015-09-21	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000194048	SCV000336804	likely benign	not specified	2015-11-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000296295	SCV000385089	likely benign	Autosomal dominant cerebellar ataxia	2018-01-13	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	RCV001087519	SCV000385091	uncertain significance	Charcot-Marie-Tooth disease axonal type 2O	2018-01-13	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.
GeneDx	RCV000711540	SCV000521813	benign	not provided	2019-05-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26378787, 24136616)
Invitae	RCV001087519	SCV000771473	benign	Charcot-Marie-Tooth disease axonal type 2O	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000711540	SCV000841918	benign	not provided	2018-03-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317679	SCV000851516	benign	Inborn genetic diseases	2019-04-05	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV001173173	SCV001336253	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000711540	SCV004135163	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	DYNC1H1: PP2, BS1
Service de Génétique Moléculaire, Hôpital Robert Debré	RCV001255793	SCV001432407	likely benign	Intellectual disability, autosomal dominant 13		no assertion criteria provided	clinical testing