ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.1444del (p.Glu482fs)

gnomAD frequency: 0.00001  dbSNP: rs759410076
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198877 SCV001369872 likely pathogenic Vitelliform macular dystrophy 2 2018-10-15 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
Invitae RCV001388531 SCV001589534 pathogenic not provided 2021-01-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BEST1 are known to be pathogenic (PMID: 21825197). This variant has not been reported in the literature in individuals with BEST1-related conditions. ClinVar contains an entry for this variant (Variation ID: 931891). This variant is present in population databases (rs759410076, ExAC 0.004%). This sequence change creates a premature translational stop signal (p.Glu482Asnfs*14) in the BEST1 gene. It is expected to result in an absent or disrupted protein product.
MGZ Medical Genetics Center RCV002290633 SCV002579399 likely pathogenic Autosomal dominant vitreoretinochoroidopathy 2021-08-02 criteria provided, single submitter clinical testing

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