ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.743C>T (p.Ser248Leu)

gnomAD frequency: 0.00001  dbSNP: rs138922415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003325556 SCV004031539 uncertain significance not provided 2023-02-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual with Leber congenital amaurosis (Safieh et al., 2016); This variant is associated with the following publications: (PMID: 34426522, 29061346, 26957854)
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250878 SCV001426370 likely pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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