Submissions for variant NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=)

gnomAD frequency: 0.00154  dbSNP: rs118187988

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174819	SCV000226189	likely benign	not specified	2016-12-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000268696	SCV000460873	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	RCV000328497	SCV000460874	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	RCV000550060	SCV000534155	benign	not provided	2018-08-16	criteria provided, single submitter	clinical testing
Invitae	RCV001083531	SCV000649149	likely benign	Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2024-01-13	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000550060	SCV001145957	benign	not provided	2018-11-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000550060	SCV004032702	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	SYNE1: BP4, BP7, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000550060	SCV001928956	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000550060	SCV001967943	likely benign	not provided		no assertion criteria provided	clinical testing