ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.244C>G (p.Leu82Val)

dbSNP: rs281865530
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000086105 SCV003440389 pathogenic not provided 2023-03-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 82 of the BEST1 protein (p.Leu82Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant Best macular dystrophy (PMID: 10394929, 19357557, 20375334). ClinVar contains an entry for this variant (Variation ID: 99696). 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 BEST1 protein function. Experimental studies have shown that this missense change affects BEST1 function (PMID: 21878505). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.
Retina International RCV000086105 SCV000118249 not provided not provided no assertion provided not provided
Clinical Genetics, Academic Medical Center RCV000086105 SCV001924327 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000086105 SCV001954156 likely pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000086105 SCV001970680 pathogenic not provided no assertion criteria provided clinical testing

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