Submissions for variant NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)

gnomAD frequency: 0.00178  dbSNP: rs149146258

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178473	SCV000230556	likely benign	not specified	2015-11-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000309218	SCV000461455	benign	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	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 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	RCV000362586	SCV000461456	uncertain significance	Autosomal recessive ataxia, Beauce type	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	RCV000756737	SCV000515922	likely benign	not provided	2019-12-18	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000178473	SCV000597343	likely benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing
Invitae	RCV001079411	SCV000649196	likely benign	Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2024-01-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000178473	SCV000884632	likely benign	not specified	2019-06-21	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000756737	SCV001145983	benign	not provided	2019-03-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000756737	SCV001154954	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	SYNE1: BP4, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000756737	SCV001741987	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000756737	SCV001797883	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000756737	SCV001926951	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000756737	SCV001965529	likely benign	not provided		no assertion criteria provided	clinical testing