ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1720C>T (p.Arg574Cys)

gnomAD frequency: 0.00002  dbSNP: rs137853897
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000086930 SCV000344271 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001306268 SCV001495630 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 574 of the GUCY2D protein (p.Arg574Cys). This variant is present in population databases (rs137853897, gnomAD 0.007%). This missense change has been observed in individual(s) with an inherited retinal dystrophy (PMID: 22025579). ClinVar contains an entry for this variant (Variation ID: 100553). 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 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.
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV000086930 SCV000119175 not provided not provided no assertion provided not provided

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