ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.1169T>C (p.Ile390Thr)

gnomAD frequency: 0.00004  dbSNP: rs375618932
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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 RCV002111868 SCV002392557 likely benign not provided 2024-11-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531379 SCV004119952 uncertain significance BEST1-related disorder 2023-10-13 criteria provided, single submitter clinical testing The BEST1 c.1169T>C variant is predicted to result in the amino acid substitution p.Ile390Thr. This variant has been reported with uncertain significance in an individual with retinitis pigmentosa (Table S4 in Kim et al. 2021. PubMed ID: 33946315). This variant is reported in 0.020% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-61729795-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Dept Of Ophthalmology, Nagoya University RCV003889047 SCV004707567 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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