ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val)

gnomAD frequency: 0.00001  dbSNP: rs61749756
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047568 SCV001211533 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-11-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 573 of the GUCY2D protein (p.Ile573Val). This variant is present in population databases (rs61749756, gnomAD 0.004%). This missense change has been observed in individual(s) with Leber congenital amaurosis (PMID: 16123401). ClinVar contains an entry for this variant (Variation ID: 98547). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GUCY2D protein function with a negative predictive value of 80%. 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.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815023 SCV005072853 uncertain significance Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing
Retina International RCV000084840 SCV000116976 not provided not provided no assertion provided not provided

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