ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys)

dbSNP: rs267606677
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000086158 SCV000564702 likely pathogenic not provided 2022-03-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24560797, 19853238, 26418331, 9700209, 10798642, 30582078, 27548040, 28559085)
Invitae RCV000086158 SCV002238133 pathogenic not provided 2022-09-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BEST1 protein function. ClinVar contains an entry for this variant (Variation ID: 2749). This variant is also known as p.Tyr167Cys. This missense change has been observed in individuals with autosomal dominant Best disease (PMID: 9700209, 26418331, 28559085, 30582078). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 227 of the BEST1 protein (p.Tyr227Cys).
OMIM RCV000002873 SCV000023031 pathogenic Vitelliform macular dystrophy 2 2009-11-01 no assertion criteria provided literature only
OMIM RCV000002874 SCV000023032 pathogenic Retinitis pigmentosa 50 2009-11-01 no assertion criteria provided literature only
Retina International RCV000086158 SCV000118302 not provided not provided no assertion provided not provided

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