ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del)

dbSNP: rs121918283
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000086179 SCV001245804 pathogenic not provided 2021-09-01 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV000002854 SCV001548103 likely pathogenic Vitelliform macular dystrophy 2 2021-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000086179 SCV001580917 pathogenic not provided 2023-03-11 criteria provided, single submitter clinical testing This variant, c.884_886del, results in the deletion of 1 amino acid(s) of the BEST1 protein (p.Ile295del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with Best vitelliform macular dystrophy (PMID: 9700209, 16612637). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2733). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects BEST1 function (PMID: 17898294). For these reasons, this variant has been classified as Pathogenic.
MGZ Medical Genetics Center RCV000002854 SCV002580310 likely pathogenic Vitelliform macular dystrophy 2 2021-09-15 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814807 SCV005070847 pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing
OMIM RCV000002854 SCV000023012 pathogenic Vitelliform macular dystrophy 2 1998-09-01 no assertion criteria provided literature only
Retina International RCV000086179 SCV000118323 not provided not provided no assertion provided not provided

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