Submissions for variant NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly)

dbSNP: rs762021815

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000809094	SCV000949234	likely benign	Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2	2023-04-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001564747	SCV001787956	uncertain significance	not provided	2019-04-26	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; Has not been previously published as pathogenic or benign to our knowledge
Centogene AG - the Rare Disease Company	RCV001809824	SCV002059540	uncertain significance	Ullrich congenital muscular dystrophy 2	2019-04-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003166281	SCV003891046	uncertain significance	Inborn genetic diseases	2023-01-26	criteria provided, single submitter	clinical testing	The c.5207A>G (p.D1736G) alteration is located in exon 29 (coding exon 28) of the COL12A1 gene. This alteration results from a A to G substitution at nucleotide position 5207, causing the aspartic acid (D) at amino acid position 1736 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.