Submissions for variant NM_005876.5(SPEG):c.8239C>T (p.Arg2747Cys)

gnomAD frequency: 0.00001  dbSNP: rs757903145

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001198058	SCV001368843	uncertain significance	Myopathy, centronuclear, 5	2019-06-22	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3. This variant was detected in homozygous state.
CeGaT Center for Human Genetics Tuebingen	RCV002511054	SCV002821031	uncertain significance	not provided	2022-11-01	criteria provided, single submitter	clinical testing	SPEG: PM2, PM3:Supporting, PP4
GeneDx	RCV002511054	SCV003933404	uncertain significance	not provided	2022-12-18	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 reported as a pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 28098136)
3billion, Medical Genetics	RCV001198058	SCV004013491	uncertain significance	Myopathy, centronuclear, 5		criteria provided, single submitter	clinical testing	The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.