ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.91dup (p.Arg31fs)

dbSNP: rs61749663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002513910 SCV003513828 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2023-04-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 98609). This premature translational stop signal has been observed in individuals with autosomal recessive leber congenital amaurosis (PMID: 15024725, 29178642). This variant is present in population databases (rs61749663, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Arg31Profs*288) 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).
Retina International RCV000084905 SCV000117041 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250872 SCV001426364 pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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