Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Laboratory, |
RCV001420220 | SCV001622640 | likely pathogenic | See cases | 2021-04-26 | criteria provided, single submitter | clinical testing | PM2_supporting;PM6_moderate;PP5_moderate;PP2_supporting;PP3_supporting |
Invitae | RCV001882529 | SCV002296137 | likely pathogenic | not provided | 2021-11-12 | criteria provided, single submitter | clinical testing | Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on RAC1 function (PMID: 28886345). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1098331). This missense change has been observed in individual(s) with RAC1-related conditions (PMID: 28886345). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 73 of the RAC1 protein (p.Pro73Leu). 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. |
Mendelics | RCV002246381 | SCV002518957 | pathogenic | Intellectual disability, autosomal dominant 48 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Laboratoire de Génétique Moléculaire, |
RCV001882529 | SCV002568829 | likely pathogenic | not provided | criteria provided, single submitter | clinical testing |