Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000536812 | SCV000656173 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2025-01-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000536812 | SCV000895789 | uncertain significance | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2021-08-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001551411 | SCV001771917 | uncertain significance | not provided | 2021-11-01 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 475878; Landrum et al., 2016) |
Revvity Omics, |
RCV001551411 | SCV003831224 | likely benign | not provided | 2023-03-03 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV000536812 | SCV004176112 | uncertain significance | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-06-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV005239213 | SCV005883426 | likely benign | not specified | 2024-12-16 | criteria provided, single submitter | clinical testing | Variant summary: COL12A1 c.5839C>A (p.Pro1947Thr) results in a non-conservative amino acid change located in the Fibronectin type III repeat domain (IPR003961) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00019 in 1614188 control chromosomes in the gnomAD database (v4.1 dataset), including 1 homozygote. To our knowledge, no occurrence of c.5839C>A in individuals affected with Ullrich congenital muscular dystrophy 2 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 475878). Based on the evidence outlined above, the variant was classified as likely benign. |