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: 4
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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)
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001250878 SCV004807451 likely pathogenic Leber congenital amaurosis 1 2024-03-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690035 SCV005185840 uncertain significance not specified 2024-05-14 criteria provided, single submitter clinical testing Variant summary: GUCY2D c.743C>T (p.Ser248Leu) results in a non-conservative amino acid change located in the Receptor, ligand binding region (IPR001828) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 249214 control chromosomes. c.743C>T has been reported in the literature in at least one homozygous individual affected with Leber Congenital Amaurosis (Safieh_2016). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 26957854). ClinVar contains an entry for this variant (Variation ID: 974670). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250878 SCV001426370 likely pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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