ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu)

gnomAD frequency: 0.00001  dbSNP: rs765463082
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001306871 SCV001496256 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 711 of the GUCY2D protein (p.Pro711Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs765463082, ExAC 0.006%). This missense change has been observed in individuals with Lebercongenital amaurosis (PMID: 20683928, 23847139). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250836 SCV001426326 likely pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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