ClinVar Miner

Submissions for variant NM_006908.5(RAC1):c.218C>T (p.Pro73Leu)

dbSNP: rs2115201441
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 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, CHU Bordeaux RCV001882529 SCV002568829 likely pathogenic not provided criteria provided, single submitter clinical testing

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