ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.418C>G (p.Leu140Val)

gnomAD frequency: 0.00003  dbSNP: rs267606678
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726591 SCV000701676 uncertain significance not provided 2016-10-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000726591 SCV002244590 pathogenic not provided 2024-12-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 140 of the BEST1 protein (p.Leu140Val). This variant is present in population databases (rs267606678, gnomAD 0.02%). This missense change has been observed in individuals with clinical features of autosomal recessive bestrophinopathy (PMID: 19853238, 32239196). ClinVar contains an entry for this variant (Variation ID: 2750). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt BEST1 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects BEST1 function (PMID: 19853238, 21330666, 24560797). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002875 SCV000023033 pathogenic Retinitis pigmentosa 50 2009-11-01 no assertion criteria provided literature only
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787540 SCV000926514 pathogenic Retinal dystrophy 2018-04-01 no assertion criteria provided research

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