ClinVar Miner

Submissions for variant NM_001664.4(RHOA):c.139G>A (p.Glu47Lys)

dbSNP: rs1575653629
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001095368 SCV000999252 pathogenic neuro-ectodermal phenotype 2019-11-28 criteria provided, single submitter research
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526531 SCV001736953 pathogenic Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526536 SCV001736958 pathogenic Hemihypertrophy criteria provided, single submitter clinical testing
GeneDx RCV001539108 SCV001756849 pathogenic not provided 2022-11-25 criteria provided, single submitter clinical testing Identified in multiple unrelated patients as a somatic mosaic variant in skin tissue with hypopigmented areas of the skin, dental anomalies, body asymmetry, hemihypotrophy and brain magnetic resonance imaging (MRI) anomalies in published literature (Vabres et al., 2019; Yigit et al., 2019); Published functional studies demonstrate a inactivating effect of the Glu47Lys RHOA variant (Vabres et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31570889, 31821646, 32335911)
Baylor Genetics RCV001526531 SCV003836018 pathogenic Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 2022-11-06 criteria provided, single submitter clinical testing
Invitae RCV001539108 SCV004629390 pathogenic not provided 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 47 of the RHOA protein (p.Glu47Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with RHOA-related conditions (PMID: 31570889, 31821646). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 695069). 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. Experimental studies have shown that this missense change affects RHOA function (PMID: 31570889). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001526531 SCV001134930 pathogenic Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 2020-01-29 no assertion criteria provided literature only
Undiagnosed Diseases Network, NIH RCV001526531 SCV004812028 pathogenic Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 2023-02-14 no assertion criteria provided clinical testing

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