Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000623667 | SCV000741416 | pathogenic | Inborn genetic diseases | 2019-07-18 | criteria provided, single submitter | clinical testing | |
Hudson |
RCV000656548 | SCV000778580 | pathogenic | not provided | 2019-03-29 | criteria provided, single submitter | research | |
Equipe Genetique des Anomalies du Developpement, |
RCV001526588 | SCV001737016 | likely pathogenic | Intellectual disability | criteria provided, single submitter | research | ||
Institute for Clinical Genetics, |
RCV000656548 | SCV002009676 | pathogenic | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000656548 | SCV003460006 | pathogenic | not provided | 2022-09-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects RALA function (PMID: 30500825). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RALA protein function. ClinVar contains an entry for this variant (Variation ID: 521019). This missense change has been observed in individual(s) with RALA-related conditions (PMID: 30500825, 30761613). 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 valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 25 of the RALA protein (p.Val25Met). |
OMIM | RCV001380398 | SCV001578462 | pathogenic | Hiatt-Neu-Cooper neurodevelopmental syndrome | 2021-05-06 | no assertion criteria provided | literature only |