ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.427G>C (p.Val143Leu)

dbSNP: rs1378679988
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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 RCV001295730 SCV001484672 uncertain significance not provided 2020-03-05 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BEST1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 143 of the BEST1 protein (p.Val143Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine.
Institute of Human Genetics, University of Leipzig Medical Center RCV001780238 SCV002026398 likely pathogenic Vitelliform macular dystrophy 2 2021-11-22 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM5_STR, PM2_SUP, PP3
MGZ Medical Genetics Center RCV001780238 SCV002580177 likely pathogenic Vitelliform macular dystrophy 2 2022-06-17 criteria provided, single submitter clinical testing

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