Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001910616 | SCV002191323 | uncertain significance | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-06-15 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1419782). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL12A1 protein function. This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 1434 of the COL12A1 protein (p.Arg1434Leu). |
| Ambry Genetics | RCV002557828 | SCV003577123 | uncertain significance | Inborn genetic diseases | 2021-10-06 | criteria provided, single submitter | clinical testing | The c.4301G>T (p.R1434L) alteration is located in exon 23 (coding exon 22) of the COL12A1 gene. This alteration results from a G to T substitution at nucleotide position 4301, causing the arginine (R) at amino acid position 1434 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |