ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.140G>A (p.Arg47His) (rs28940278)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000086086 SCV001580688 pathogenic not provided 2020-08-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 47 of the BEST1 protein (p.Arg47His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs28940278, ExAC 0.001%). This variant has been observed in individual(s) with clinical features of autosomal recessive bestrophinopathy (PMID: 30498755, 29976937, 28687848). It has also been observed to segregate with disease in related individuals. Both affected and unaffected heterozygous individuals have been reported, making the role of this variant in autosomal dominant disease unclear (PMID: 10854112, 30718709, 27078032). ClinVar contains an entry for this variant (Variation ID: 2738). This variant has been reported not to substantially affect BEST1 protein function (PMID: 24560797). This variant disrupts the p.Arg47 amino acid residue in BEST1. Other variant(s) that disrupt this residue have been observed in individuals with BEST1-related conditions (PMID: 21273940), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002860 SCV000023018 pathogenic Vitelliform macular dystrophy type 2 2000-04-01 no assertion criteria provided literature only
Retina International RCV000086086 SCV000118230 not provided not provided no assertion provided not provided
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000002860 SCV000926509 likely pathogenic Vitelliform macular dystrophy type 2 2018-04-01 no assertion criteria provided research

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