ClinVar Miner

Submissions for variant NM_000180.3(GUCY2D):c.3224+1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704819 SCV000833788 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2017-10-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 18 of the GUCY2D gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in an individual with Leber congenital amaurosis (PMID: 23035049). Donor and acceptor splice site variants 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, 17964524). For these reasons, this variant has been classified as Pathogenic.

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