Submissions for variant NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile)

gnomAD frequency: 0.00023  dbSNP: rs375673671

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000539466	SCV000656179	benign	Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2	2023-01-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001566196	SCV001789678	uncertain significance	not provided	2024-06-17	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics	RCV000539466	SCV002814992	uncertain significance	Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2	2021-08-09	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001566196	SCV003833295	uncertain significance	not provided	2022-03-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001566196	SCV003917077	uncertain significance	not provided	2023-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004024348	SCV004928493	uncertain significance	Inborn genetic diseases	2024-03-11	criteria provided, single submitter	clinical testing	The c.607C>A (p.L203I) alteration is located in exon 6 (coding exon 5) of the COL12A1 gene. This alteration results from a C to A substitution at nucleotide position 607, causing the leucine (L) at amino acid position 203 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.