ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.914del (p.His305fs)

dbSNP: rs1598144694
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796233 SCV000935738 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2020-12-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). This variant has been observed in a family affected with Leber congenital amaurosis (PMID: 26355662). This variant is not present in population databases (ExAC no frequency). 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.
Revvity Omics, Revvity RCV003489874 SCV004236113 pathogenic not provided 2023-05-09 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989605 SCV004806051 likely pathogenic Leber congenital amaurosis 1 2024-03-25 criteria provided, single submitter clinical testing

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