Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MAGI'S LAB - |
RCV000655874 | SCV000747140 | likely pathogenic | Vitelliform macular dystrophy 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. |