Submissions for variant NM_001849.4(COL6A2):c.1562G>A (p.Arg521Gln)

gnomAD frequency: 0.00001  dbSNP: rs367693258

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000394463	SCV000341830	uncertain significance	not provided	2016-05-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001248350	SCV001421827	likely benign	Bethlem myopathy 1A	2024-12-31	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000394463	SCV001713890	uncertain significance	not provided	2020-03-23	criteria provided, single submitter	clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV002252084	SCV002523421	uncertain significance	See cases	2019-12-25	criteria provided, single submitter	clinical testing	ACMG classification criteria: PM2
Revvity Omics, Revvity	RCV000394463	SCV003834114	uncertain significance	not provided	2019-06-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003352822	SCV004054589	uncertain significance	Inborn genetic diseases	2023-08-08	criteria provided, single submitter	clinical testing	The c.1562G>A (p.R521Q) alteration is located in exon 19 (coding exon 18) of the COL6A2 gene. This alteration results from a G to A substitution at nucleotide position 1562, causing the arginine (R) at amino acid position 521 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV003992262	SCV004809549	uncertain significance	Ullrich congenital muscular dystrophy 1B	2024-04-04	criteria provided, single submitter	clinical testing