ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.620T>A (p.Leu207His)

dbSNP: rs1591289408
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001063548 SCV001228398 uncertain significance not provided 2019-12-05 criteria provided, single submitter clinical testing 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 leucine with histidine at codon 207 of the BEST1 protein (p.Leu207His). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and histidine. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002891 SCV001160925 pathogenic maculopathy 2019-06-23 no assertion criteria provided research

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