Submissions for variant NM_182914.3(SYNE2):c.7075A>G (p.Ser2359Gly)

gnomAD frequency: 0.03914  dbSNP: rs7157465

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000540657	SCV000387398	benign	Emery-Dreifuss muscular dystrophy 5, 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000540657	SCV000648965	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2024-01-25	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000540657	SCV000744038	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2016-04-07	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000118547	SCV001475657	benign	not specified	2020-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001719876	SCV001947891	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001719876	SCV005290255	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000118547	SCV000152953	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Clinical Genetics, Academic Medical Center	RCV000118547	SCV001923899	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975049	SCV004794119	benign	SYNE2-related disorder	2020-01-31	no assertion criteria provided	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).