ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2770-2A>G

dbSNP: rs1975943416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005225330 SCV005863181 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-08-31 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 14 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with leber congenital amaurosis (PMID: 27422788). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 974647). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250845 SCV001426336 pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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