ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn)

gnomAD frequency: 0.00001  dbSNP: rs201587670
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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 RCV000556412 SCV000649519 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-11-08 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 866 of the GUCY2D protein (p.Lys866Asn). This variant is present in population databases (rs201587670, gnomAD 0.003%). This missense change has been observed in individual(s) with Leber congenital amaurosis (PMID: 20683928, 32865313; internal data). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 471238). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GUCY2D protein function. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000989743 SCV001140287 pathogenic Cone-rod dystrophy 6 2019-05-28 criteria provided, single submitter clinical testing
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250816 SCV001426301 likely pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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