ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.241G>A (p.Val81Met)

dbSNP: rs1555098634
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075495 SCV001241119 likely pathogenic Retinal dystrophy 2018-11-08 criteria provided, single submitter clinical testing
Invitae RCV001855394 SCV002237806 pathogenic not provided 2021-10-07 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 81 of the BEST1 protein (p.Val81Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BEST1 protein function. ClinVar contains an entry for this variant (Variation ID: 548451). This missense change has been observed in individuals with autosomal dominant Best vitelliform macular dystrophy (PMID: 21109774, 26201355, 28687848, 31519547). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency).
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres RCV000661905 SCV000778391 likely pathogenic Vitelliform macular dystrophy 2 2018-02-05 no assertion criteria provided provider interpretation

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