ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.279G>C (p.Trp93Cys)

dbSNP: rs28940273
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000086116 SCV003440410 pathogenic not provided 2023-02-26 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 93 of the BEST1 protein (p.Trp93Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant Best vitelliform macular dystrophy (PMID: 9662395, 23617333). It has also been observed to segregate with disease in related individuals. This variant is also known as G383C. ClinVar contains an entry for this variant (Variation ID: 2727). 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. Experimental studies have shown that this missense change affects BEST1 function (PMID: 12939260, 25878489). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002846 SCV000023004 pathogenic Vitelliform macular dystrophy 2 1998-07-01 no assertion criteria provided literature only
Retina International RCV000086116 SCV000118260 not provided not provided no assertion provided not provided

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