ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1805G>A (p.Arg602Gln)

gnomAD frequency: 0.00004  dbSNP: rs747173302
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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 RCV001936565 SCV002198808 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 602 of the GUCY2D protein (p.Arg602Gln). This variant is present in population databases (rs747173302, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of GUCY2D-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1428951). 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.
Ambry Genetics RCV004041878 SCV004879619 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.1805G>A (p.R602Q) alteration is located in exon 9 (coding exon 8) of the GUCY2D gene. This alteration results from a G to A substitution at nucleotide position 1805, causing the arginine (R) at amino acid position 602 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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