Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002032538 | SCV002304844 | likely pathogenic | not provided | 2020-12-23 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Cys116 amino acid residue in GPR143. Other variant(s) that disrupt this residue have been observed in individuals with GPR143-related conditions (PMID: 16646960, 9529334, 11214907), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with ocular albinism (PMID: 17960122, Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with glycine at codon 116 of the GPR143 protein (p.Cys116Gly). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and glycine. |
Genomics England Pilot Project, |
RCV001542634 | SCV001760529 | likely pathogenic | Ocular albinism, type I | no assertion criteria provided | clinical testing |