ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.663T>G (p.Cys221Trp)

dbSNP: rs281865240
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000086153 SCV003439873 pathogenic not provided 2022-01-13 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: 99738). This missense change has been observed in individual(s) with Best macular dystrophy (PMID: 10682987). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 221 of the BEST1 protein (p.Cys221Trp).
Retina International RCV000086153 SCV000118297 not provided not provided no assertion provided not provided

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