Submissions for variant NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly)

gnomAD frequency: 0.00116  dbSNP: rs45590135

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000239148	SCV000297403	benign	not specified	2015-09-18	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000239148	SCV000333658	likely benign	not specified	2015-11-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000556315	SCV000387403	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	RCV000556315	SCV000648969	likely benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2024-01-04	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001288500	SCV001475658	likely benign	not provided	2020-04-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000239148	SCV003710255	uncertain significance	not specified	2021-09-16	criteria provided, single submitter	clinical testing	The c.7163A>G (p.E2388G) alteration is located in exon 45 (coding exon 44) of the SYNE2 gene. This alteration results from a A to G substitution at nucleotide position 7163, causing the glutamic acid (E) at amino acid position 2388 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV001288500	SCV004134230	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SYNE2: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001288500	SCV005212136	likely benign	not provided		criteria provided, single submitter	not provided