ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.365G>C (p.Arg122Pro)

dbSNP: rs767103810
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV002222859 SCV002499987 likely pathogenic Autosomal recessive bestrophinopathy criteria provided, single submitter clinical testing homozygous
3billion RCV002222859 SCV003841358 likely pathogenic Autosomal recessive bestrophinopathy 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.97; 3Cnet: 1.00). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with BEST1 related disorder (ClinVar ID: VCV001676943). A different missense change at the same codon (p.Arg122Trp) has been reported to be associated with BEST1 related disorder (ClinVar ID: VCV001708389). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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