Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000086136 | SCV000490428 | pathogenic | not provided | 2015-08-28 | criteria provided, single submitter | clinical testing | The c.436_437delGCinsAA mutation in the BEST1 gene, which leads to substitution of Alanine 146 with a Lysine residue, has been reported previously in association with Best disease (Allikmets et al., 1999). We consider this variant to be pathogenic. |
Invitae | RCV000086136 | SCV002135591 | pathogenic | not provided | 2023-05-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects BEST1 function (PMID: 17898294, 23139242). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 2736). This missense change has been observed in individuals with autosomal dominant Best disease (PMID: 10453731, 10737974, 11713080, 23139242). This variant is present in population databases (rs1800995, gnomAD 0.0007%). This sequence change replaces alanine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 146 of the BEST1 protein (p.Ala146Lys). |
OMIM | RCV000002857 | SCV000023015 | pathogenic | Vitelliform macular dystrophy 2 | 1999-06-01 | no assertion criteria provided | literature only | |
Retina International | RCV000086136 | SCV000118280 | not provided | not provided | no assertion provided | not provided |