ClinVar Miner

Submissions for variant NM_000180.3(GUCY2D):c.914del (p.His305Profs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796233 SCV000935738 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2018-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His305Profs*90) 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 observed in a family affected with Leber congenital amaurosis (PMID: 26355662). Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). For these reasons, this variant has been classified as Pathogenic.

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