Submissions for variant NM_182914.3(SYNE2):c.6599A>G (p.Lys2200Arg)

dbSNP: rs551801857

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000300520	SCV000335462	uncertain significance	not provided	2015-10-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000647604	SCV000387385	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	RCV000647604	SCV000769402	likely benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2022-04-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004021136	SCV003756555	uncertain significance	not specified	2021-06-11	criteria provided, single submitter	clinical testing	The c.6599A>G (p.K2200R) alteration is located in exon 43 (coding exon 42) of the SYNE2 gene. This alteration results from a A to G substitution at nucleotide position 6599, causing the lysine (K) at amino acid position 2200 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.