ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys)

dbSNP: rs527236091
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857472 SCV002171448 uncertain significance not provided 2021-06-08 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 25324289, 30718709). ClinVar contains an entry for this variant (Variation ID: 143066). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 526 of the PDE6B protein (p.Glu526Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
Dept Of Ophthalmology, Nagoya University RCV003888537 SCV004705782 likely pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132574 SCV000172516 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000132574 SCV000926629 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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