Submissions for variant NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg)

gnomAD frequency: 0.00035  dbSNP: rs185171880

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000542800	SCV000656208	likely benign	Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001584355	SCV001819070	likely benign	not provided	2021-12-14	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
Ambry Genetics	RCV002527917	SCV003684735	uncertain significance	Inborn genetic diseases	2022-06-13	criteria provided, single submitter	clinical testing	The c.8639A>G (p.H2880R) alteration is located in exon 60 (coding exon 59) of the COL12A1 gene. This alteration results from a A to G substitution at nucleotide position 8639, causing the histidine (H) at amino acid position 2880 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003905471	SCV004718400	likely benign	COL12A1-related disorder	2022-02-23	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).