Submissions for variant NM_182961.4(SYNE1):c.20182C>T (p.Arg6728Cys)

gnomAD frequency: 0.00009  dbSNP: rs150063353

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000508070	SCV000605326	uncertain significance	not specified	2016-09-04	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000991339	SCV000615603	uncertain significance	not provided	2019-02-25	criteria provided, single submitter	clinical testing
Invitae	RCV001857275	SCV002286140	uncertain significance	Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2023-07-19	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 440314). This variant is also known as p.R6728C. This missense change has been observed in individual(s) with clinical features of autosomal recessive spastic ataxia (PMID: 29482223). This variant is present in population databases (rs150063353, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 6657 of the SYNE1 protein (p.Arg6657Cys).
Revvity Omics, Revvity	RCV000991339	SCV003826410	uncertain significance	not provided	2020-06-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000991339	SCV004160524	uncertain significance	not provided	2023-02-01	criteria provided, single submitter	clinical testing	SYNE1: PM2