Submissions for variant NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His)

gnomAD frequency: 0.00064  dbSNP: rs200437377

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725104	SCV000334026	uncertain significance	not provided	2015-08-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000537935	SCV000387348	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	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	RCV000364942	SCV000615728	uncertain significance	not specified	2016-10-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000537935	SCV000648939	likely benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2024-12-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000364942	SCV003597861	uncertain significance	not specified	2024-01-16	criteria provided, single submitter	clinical testing	The c.3506G>A (p.R1169H) alteration is located in exon 28 (coding exon 27) of the SYNE2 gene. This alteration results from a G to A substitution at nucleotide position 3506, causing the arginine (R) at amino acid position 1169 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV000537935	SCV003818272	likely benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2023-06-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003909933	SCV004725718	likely benign	SYNE2-related disorder	2023-01-10	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).