ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.38G>A (p.Arg13His)

gnomAD frequency: 0.00001  dbSNP: rs281865209
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075157 SCV001240769 likely pathogenic Retinal dystrophy 2018-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000086130 SCV002232117 pathogenic not provided 2024-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 13 of the BEST1 protein (p.Arg13His). This variant is present in population databases (rs281865209, gnomAD 0.01%). This missense change has been observed in individual(s) with autosomal recessive bestrinopathy (PMID: 25489231, 30593719, 31519547). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant has been reported in individual(s) with autosomal dominant Best vitelliform macular dystrophy (PMID: 10331951, 25489231); however, the role of the variant in this condition is currently unclear. ClinVar contains an entry for this variant (Variation ID: 99717). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt BEST1 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001075157 SCV005070606 likely pathogenic Retinal dystrophy 2020-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000086130 SCV005325609 pathogenic not provided 2023-11-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31519547, 30593719, 28056057, 25489231, 37747403, 30498755, 10331951, 28687848)
Retina International RCV000086130 SCV000118274 not provided not provided no assertion provided not provided

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