ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.1444del (p.Glu482fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198877 SCV001369872 likely pathogenic Vitelliform macular dystrophy type 2 2018-10-15 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
Invitae RCV001388531 SCV001589534 pathogenic not provided 2020-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu482Asnfs*14) in the BEST1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs759410076, ExAC 0.004%). This variant has not been reported in the literature in individuals with BEST1-related conditions. ClinVar contains an entry for this variant (Variation ID: 931891). Loss-of-function variants in BEST1 are known to be pathogenic (PMID: 21825197). For these reasons, this variant has been classified as Pathogenic.

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