Submissions for variant NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)

gnomAD frequency: 0.00066  dbSNP: rs148038440

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725141	SCV000334397	uncertain significance	not provided	2017-10-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000725141	SCV000590000	likely benign	not provided	2019-11-18	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported as heterozygous variant in individual with reported clinically-suspected limb-girdle muscular dystrophy; however, a second variant in COL6A3 was not identified and additional clinical information was not provided (Nallamilli et al., 2018); This variant is associated with the following publications: (PMID: 30564623)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000653522	SCV000775403	likely benign	Bethlem myopathy 1A	2023-12-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001139021	SCV001299127	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.
Revvity Omics, Revvity	RCV000725141	SCV003828272	likely benign	not provided	2023-12-11	criteria provided, single submitter	clinical testing
GenomeConnect, ClinGen	RCV001824721	SCV002075000	not provided	Bethlem myopathy 1A; Dystonia 27		no assertion provided	phenotyping only	Variant interpreted as Uncertain significance and reported on 10-03-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.