ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)

gnomAD frequency: 0.00001  dbSNP: rs61750161
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047937 SCV001211922 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2023-12-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg660*) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). This variant is present in population databases (rs61750161, gnomAD 0.0009%). This premature translational stop signal has been observed in individuals with Leber congenital amaurosis (PMID: 24997176). ClinVar contains an entry for this variant (Variation ID: 98554). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000084847 SCV000116983 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250870 SCV001426362 pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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