Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519676 | SCV000617162 | uncertain significance | not provided | 2015-09-18 | criteria provided, single submitter | clinical testing | The R1522C variant in the COL12A1 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1522C variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R1522 variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis predicts this variant is probably damaging to protein structure/function. However, this substitution occurs at a position that is not conserved. We interpret R1522C as a variant of uncertain significance. |
Labcorp Genetics |
RCV001857946 | SCV002285978 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-03-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003302754 | SCV003993361 | uncertain significance | Inborn genetic diseases | 2023-05-05 | criteria provided, single submitter | clinical testing | The c.4564C>T (p.R1522C) alteration is located in exon 25 (coding exon 24) of the COL12A1 gene. This alteration results from a C to T substitution at nucleotide position 4564, causing the arginine (R) at amino acid position 1522 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV000519676 | SCV004700005 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | COL12A1: BP4 |