Submissions for variant NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)

gnomAD frequency: 0.00106  dbSNP: rs141671123

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000378091	SCV000334997	likely benign	not specified	2017-03-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000336864	SCV000461447	benign	Emery-Dreifuss muscular dystrophy 4, 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.
Illumina Laboratory Services, Illumina	RCV000391737	SCV000461448	uncertain significance	Autosomal recessive ataxia, Beauce type	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, 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	RCV000713680	SCV000525724	likely benign	not provided	2021-01-07	criteria provided, single submitter	clinical testing
Invitae	RCV001085862	SCV000649199	likely benign	Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2024-01-15	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000713680	SCV000844307	likely benign	not provided	2018-07-19	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000336864	SCV001528393	uncertain significance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2018-04-25	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen	RCV000713680	SCV004162438	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	SYNE1: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000713680	SCV001741940	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000713680	SCV001972659	likely benign	not provided		no assertion criteria provided	clinical testing