ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.893T>C (p.Phe298Ser)

dbSNP: rs281865257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000086185 SCV003440414 pathogenic not provided 2022-08-07 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: 99767). This missense change has been observed in individuals with macular dystrophy (PMID: 14517959, 17698758, 23213274). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 298 of the BEST1 protein (p.Phe298Ser).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815164 SCV005070639 likely pathogenic Retinal dystrophy 2017-01-01 criteria provided, single submitter clinical testing
Retina International RCV000086185 SCV000118329 not provided not provided no assertion provided not provided

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