Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000084921 | SCV002304853 | likely pathogenic | not provided | 2023-07-03 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this missense change affects GPR143 function (PMID: 11115845). 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. ClinVar contains an entry for this variant (Variation ID: 98624). This missense change has been observed in individuals with oculocutaneous albinism (PMID: 8634705, 12868035, 31574285). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 84 of the GPR143 protein (p.Gly84Asp). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
Retina International | RCV000084921 | SCV000117057 | not provided | not provided | no assertion provided | not provided |