ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs)

dbSNP: rs1975911430
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208974 SCV001380392 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2020-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His800Argfs*20) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product. 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 not been reported in the literature in individuals with GUCY2D-related conditions. This variant is not present in population databases (ExAC no frequency).

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