ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.535A>G (p.Asn179Asp) (rs1555099968)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP RCV000664326 SCV000599453 likely pathogenic Vitelliform macular dystrophy type 2 2017-09-11 criteria provided, single submitter clinical testing Assessment via ACMG Guidelines: PM1 Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation PM2 Absent from controls (or at extremely low frequency if recessive) (table 6) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium PP2 Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease PP4 Patient’s phenotype or family history is highly specific for a disease with a single genetic etiology Likely pathogenic 2 Moderate (PM1-PM6) AND >=2 supporting (PP1-PP5)

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