Submissions for variant NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys)

gnomAD frequency: 0.00083  dbSNP: rs150098077

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725902	SCV000340390	uncertain significance	not provided	2018-02-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000335376	SCV000436747	benign	Collagen 6-related myopathy	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	RCV000391271	SCV000436748	likely benign	Myosclerosis	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000725902	SCV000622026	likely benign	not provided	2019-07-24	criteria provided, single submitter	clinical testing	Observed in an individual with cerebral palsy in published literature, however no additional clinical details were available (Pingel et al., 2019); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30564623, 30467950)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082860	SCV000657133	likely benign	Bethlem myopathy 1A	2025-01-13	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000725902	SCV003832502	likely benign	not provided	2023-04-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725902	SCV004149942	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	COL6A2: BS1
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000335376	SCV005916692	likely benign	Collagen 6-related myopathy	2021-07-30	criteria provided, single submitter	research
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences	RCV001261892	SCV001439221	uncertain significance	Bethlem myopathy	2020-10-19	no assertion criteria provided	clinical testing	28-year-old female, born as a floppy baby with some improvement. At the moment, she has proximal and distal weakness, and myogenic electromyography.
PreventionGenetics, part of Exact Sciences	RCV004535372	SCV004739427	likely benign	COL6A2-related disorder	2022-10-04	no assertion criteria provided	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).