Submissions for variant NM_004369.4(COL6A3):c.3549C>G (p.Asp1183Glu)

gnomAD frequency: 0.00001  dbSNP: rs762240306

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000488005	SCV000575304	uncertain significance	not provided	2023-11-01	criteria provided, single submitter	clinical testing	COL6A3: PM2, BP4
Labcorp Genetics (formerly Invitae), Labcorp	RCV000821825	SCV000962597	likely benign	Bethlem myopathy 1A	2024-10-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000488005	SCV002027905	uncertain significance	not provided	2022-10-18	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity	RCV000488005	SCV003834645	uncertain significance	not provided	2023-01-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000488005	SCV005187445	uncertain significance	not provided		criteria provided, single submitter	not provided
Ambry Genetics	RCV004975571	SCV005564434	uncertain significance	Inborn genetic diseases	2024-09-25	criteria provided, single submitter	clinical testing	The c.3549C>G (p.D1183E) alteration is located in exon 8 (coding exon 7) of the COL6A3 gene. This alteration results from a C to G substitution at nucleotide position 3549, causing the aspartic acid (D) at amino acid position 1183 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.