ClinVar Miner

Submissions for variant NM_004183.3(BEST1):c.89A>G (p.Lys30Arg) (rs281865218)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000086188 SCV000490945 uncertain significance not provided 2016-12-09 criteria provided, single submitter clinical testing The K30R variant in the BEST1 gene has been reported previously in association with Best disease, however familial segregation information was not provided (Lotery et al., 2000; Chung et al., 2001). The K30R variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The K30R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret K30R as a variant of uncertain significance.
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000761260 SCV000891217 likely pathogenic Vitelliform macular dystrophy type 2 2016-07-16 criteria provided, single submitter clinical testing
Retina International RCV000086188 SCV000118332 not provided not provided no assertion provided not provided

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