ClinVar Miner

Submissions for variant NM_000180.3(GUCY2D):c.2563C>T (p.Gln855Ter) (rs1555635778)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593037 SCV000702469 pathogenic not provided 2016-10-06 criteria provided, single submitter clinical testing
Invitae RCV000700865 SCV000829640 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2018-04-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln855*) in the GUCY2D 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 reported to segregate with Leber congenital amaurosis in a family (PMID: 10636733). This variant is also known as c.2646C>T in the literature. Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726, 17964524). For these reasons, this variant has been classified as Pathogenic.

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