Submissions for variant NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg)

gnomAD frequency: 0.00058  dbSNP: rs112744561

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000595514	SCV000701259	likely benign	not specified	2016-09-28	criteria provided, single submitter	clinical testing
Invitae	RCV000872151	SCV001013925	likely benign	Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001571443	SCV001795923	uncertain significance	not provided	2023-11-09	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002532364	SCV003703759	uncertain significance	Inborn genetic diseases	2021-11-12	criteria provided, single submitter	clinical testing	The c.5828A>G (p.H1943R) alteration is located in exon 41 (coding exon 40) of the SYNE1 gene. This alteration results from a A to G substitution at nucleotide position 5828, causing the histidine (H) at amino acid position 1943 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV001571443	SCV003826472	uncertain significance	not provided	2022-03-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003980072	SCV004788644	likely benign	SYNE1-related condition	2023-06-06	criteria provided, single submitter	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).