Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002012285 | SCV002233456 | uncertain significance | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-11-12 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2918 of the COL12A1 protein (p.Gly2918Val). 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 variant has not been reported in the literature in individuals affected with COL12A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1448950). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
| Gene |
RCV002265052 | SCV002547137 | likely pathogenic | not provided | 2024-03-29 | criteria provided, single submitter | clinical testing | Identified in a patient with syndromic joint hypermobility in published literature (PMID: 37079061); Not observed at significant frequency in large population cohorts (gnomAD); A published functional study suggests that the c.8753G>T variant results in skipping of exon 63 (PMID: 37079061); In silico analysis supports that this missense variant has a deleterious effect on splicing; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 37079061) |