ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1771A>G (p.Asn591Asp)

dbSNP: rs1975862803
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003770303 SCV004589433 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 591 of the GUCY2D protein (p.Asn591Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. ClinVar contains an entry for this variant (Variation ID: 974636). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GUCY2D protein function. 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 RCV001250831 SCV001426320 likely pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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