Submissions for variant NM_004370.6(COL12A1):c.9078del (p.Gly3027fs)

dbSNP: rs2149322917

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002027927	SCV002316174	uncertain significance	Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2	2022-09-27	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1521594). This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the COL12A1 gene (p.Gly3027Alafs*50). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 37 amino acid(s) of the COL12A1 protein and extend the protein by 12 additional amino acid residues.
Revvity Omics, Revvity	RCV003491020	SCV004235373	uncertain significance	not provided	2023-06-07	criteria provided, single submitter	clinical testing