ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1198C>T (p.Pro400Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005224887 SCV005869738 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-09-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 400 of the GUCY2D protein (p.Pro400Ser). This variant is present in population databases (rs779327088, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. 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.

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