ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.874G>C (p.Glu292Gln) (rs886039311)

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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 RCV000655874 SCV000747140 likely pathogenic Vitelliform macular dystrophy type 2 2018-05-08 criteria provided, single submitter clinical testing The p.(Glu292Gln) variant in BEST1 has been identified in a proband and his father both affected by Best vitelliform macular dystrophy (BVMD). Application of ACMG guidelines: PM2, absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium; PM5, novel missense change at an amino acid residue where a different missense change determined to be pathogenic has been seen before; PP1, cosegregation with disease in multiple affected family members in a gene definitely known to cause the disease. PP3, multiple lines of computational evidence support a deleterious effect on the gene or gene product (conservation, evolutionary, splicing impact, etc.). In summary, the p.(Glu292Gln) variant meets the ACMG criteria to be classified as likely pathogenic.

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