ClinVar Miner

Submissions for variant NM_005402.4(RALA):c.73G>A (p.Val25Met)

dbSNP: rs1554297905
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Total submissions: 6
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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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000656548 SCV000778580 pathogenic not provided 2019-03-29 criteria provided, single submitter research
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526588 SCV001737016 likely pathogenic Intellectual disability criteria provided, single submitter research
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 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

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