ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.3224+1G>C

gnomAD frequency: 0.00001  dbSNP: rs757823463
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704819 SCV000833788 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2023-08-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 581095). Disruption of this splice site has been observed in individual(s) with Leber congenital amaurosis (PMID: 23035049). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs757823463, gnomAD 0.003%). This sequence change affects a donor splice site in intron 18 of the GUCY2D gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726).
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729691 SCV001976780 pathogenic Leber congenital amaurosis 1 2021-08-10 criteria provided, single submitter clinical testing PVS1, PM2, PP3, PP5
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817943 SCV005070188 pathogenic Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021099 SCV005652782 likely pathogenic Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i 2024-06-22 criteria provided, single submitter clinical testing

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