Submissions for variant NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn)

gnomAD frequency: 0.00033  dbSNP: rs139399166

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724011	SCV000224897	uncertain significance	not provided	2017-04-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000407691	SCV000436665	likely benign	Myosclerosis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000311316	SCV000436666	benign	Collagen 6-related myopathy	2018-01-13	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.
GeneDx	RCV000724011	SCV000618231	uncertain significance	not provided	2024-03-29	criteria provided, single submitter	clinical testing	Reported previously in an individual with macular degeneration with no reported history of muscle disease (PMID: 24036952); Reported as a germline variant in an individual with gastric cancer, although no evidence of pathogenicity or further clinical information were provided (PMID: 28875981); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30564623, 31805011, 24036952, 28875981)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000536085	SCV000657235	likely benign	Bethlem myopathy 1A	2025-01-06	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000724011	SCV003834131	uncertain significance	not provided	2020-11-23	criteria provided, single submitter	clinical testing
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino	RCV004725025	SCV005205833	uncertain significance	Tip-toe gait	2024-07-31	criteria provided, single submitter	clinical testing