Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518779 | SCV000614600 | uncertain significance | not specified | 2017-02-10 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727782 | SCV000855178 | uncertain significance | not provided | 2018-03-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000800479 | SCV000940197 | 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 | 2023-10-22 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 40 of the PLEC protein (p.Arg40Trp). This variant is present in population databases (rs781877536, gnomAD 0.04%). 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: 448050). 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. |
Knight Diagnostic Laboratories, |
RCV001270050 | SCV001448781 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2Q | 2019-06-19 | criteria provided, single submitter | clinical testing |