ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.703G>T (p.Val235Leu)

dbSNP: rs281865245
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090321 SCV001245801 pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001090321 SCV001480087 pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001090321 SCV001545985 uncertain significance not provided 2020-02-15 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. This variant disrupts the p.Val235 amino acid residue in BEST1. Other variant(s) that disrupt this residue have been observed in individuals with BEST1-related conditions (PMID: 9700209), which suggests that this may be a clinically significant amino acid residue. 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 missense change has been observed in individual(s) with Best vitelliform macular dystrophy (PMID: 11241846). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 235 of the BEST1 protein (p.Val235Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine.

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