Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Revvity Omics, |
RCV001780858 | SCV002023361 | likely pathogenic | not provided | 2020-05-20 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001780858 | SCV002243688 | pathogenic | not provided | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2008 of the COL7A1 protein (p.Arg2008His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal recessive COL7A1-related conditions (PMID: 17501948). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1324153). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant disrupts the p.Arg2008 amino acid residue in COL7A1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9740253, 10084325, 15888141, 16271705, 20184583). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Mendelics | RCV002246499 | SCV002516286 | likely pathogenic | Transient bullous dermolysis of the newborn | 2022-05-04 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001780858 | SCV002599605 | likely pathogenic | not provided | 2022-05-02 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: Noor2015[thesis], 17501948, 16774583) |
| Fulgent Genetics, |
RCV005038319 | SCV005664175 | likely pathogenic | Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa | 2024-04-29 | criteria provided, single submitter | clinical testing |