ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.422G>A (p.Arg141His) (rs121918284)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000086135 SCV000230223 pathogenic not provided 2014-06-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000002862 SCV000372727 likely benign Vitelliform macular dystrophy type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375283 SCV000372728 likely benign Vitreoretinochoroidopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292546 SCV000372729 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000086135 SCV000490427 pathogenic not provided 2015-08-20 criteria provided, single submitter clinical testing The R141H variant in the BEST1 gene has been reported previously in association with Best macular dystrophy (Kramer et al., 2000). This variant was not observed at any significant frequency in either the NHLBI Exome Sequencing Project or the 1000 Genomes Project. The R141H substitution occurs at a position that is conserved across species. Functional in vitro studies have demonstrated that the R141H protein is mislocalized, prematurely degraded, and has significantly reduced chloride conductance relative to the wild-type protein (Davidson et al., 2011; Johnson et al., 2014). We interpret the R141H variant as a pathogenic variant.
OMIM RCV000002862 SCV000023020 pathogenic Vitelliform macular dystrophy type 2 2011-06-01 no assertion criteria provided literature only
OMIM RCV000002863 SCV000023021 pathogenic Bestrophinopathy, autosomal recessive 2011-06-01 no assertion criteria provided literature only
Retina International RCV000086135 SCV000118279 not provided not provided no assertion provided not provided
Laboratorio de Imunogenetica e Histocompatibilidade, Universidade Federal do Parana RCV000002863 SCV000540928 pathogenic Bestrophinopathy, autosomal recessive 2015-01-25 no assertion criteria provided phenotyping only The variant was found together with c.400C>G. Both are believed are causative of Bestrophinopathy autosomal recessive (BAR).
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787541 SCV000926515 pathogenic Stargardt disease 2018-04-01 no assertion criteria provided research

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