Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000595280 | SCV000705900 | uncertain significance | not provided | 2018-08-23 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001071847 | SCV001237175 | uncertain significance | Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1349 of the PLEC protein (p.His1349Cys). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. ClinVar contains an entry for this variant (Variation ID: 500105). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 |
RCV000595280 | SCV001778176 | uncertain significance | not provided | 2020-11-20 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncation/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge |