ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.929T>C (p.Ile310Thr)

dbSNP: rs281865271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000086203 SCV001584644 pathogenic not provided 2023-03-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 310 of the BEST1 protein (p.Ile310Thr). This variant is not present in population databases (gnomAD no frequency). 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: 99784). This missense change has been observed in individuals with autosomal dominant Best vitelliform macular dystrophy (PMID: 10854112, 21109774, 25082885). It has also been observed to segregate with disease in related individuals.
Retina International RCV000086203 SCV000118347 not provided not provided no assertion provided not provided

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