ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.728C>T (p.Ala243Val) (rs28940570)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000086167 SCV000704550 pathogenic not provided 2017-02-04 criteria provided, single submitter clinical testing
Invitae RCV000086167 SCV001212418 pathogenic not provided 2020-09-04 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 243 of the BEST1 protein (p.Ala243Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs28940570, ExAC 0.001%). This variant has been observed to segregate with a mild form of autosomal dominant macular dystrophy in families and is present in many unrelated individuals affected with macular dystrophy (PMID: 28225368, 10854112, 28559085, 28225368). ClinVar contains an entry for this variant (Variation ID: 2737). This variant has been reported to have conflicting or insufficient data to determine the effect on BEST1 protein function (PMID: 24560797, 17065513). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075633 SCV001241260 pathogenic Retinal dystrophy 2019-02-11 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000086167 SCV001245802 pathogenic not provided 2021-03-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000086167 SCV001446682 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV000002858 SCV001548129 likely pathogenic Vitelliform macular dystrophy type 2 2021-01-30 criteria provided, single submitter clinical testing
OMIM RCV000002858 SCV000023016 pathogenic Vitelliform macular dystrophy type 2 2000-04-01 no assertion criteria provided literature only
Retina International RCV000086167 SCV000118311 not provided not provided no assertion provided not provided
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000002858 SCV000926520 likely pathogenic Vitelliform macular dystrophy type 2 2018-04-01 no assertion criteria provided research

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