ClinVar Miner

Submissions for variant NM_006204.4(PDE6C):c.1579C>T (p.Arg527Ter) (rs1028838062)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV000664192 SCV000678423 pathogenic Achromatopsia 2017-12-01 criteria provided, single submitter research
Invitae RCV001044021 SCV001207794 pathogenic not provided 2019-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg527*) in the PDE6C gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with achromatopsia (PMID: 28704108, 30080950). ClinVar contains an entry for this variant (Variation ID: 487692). Loss-of-function variants in PDE6C are known to be pathogenic (PMID: 19887631, 23776498, 26103963, 30080950). For these reasons, this variant has been classified as Pathogenic.

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