ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met)

gnomAD frequency: 0.00021  dbSNP: rs143585840
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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 RCV001040770 SCV001204359 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-10-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 662 of the GUCY2D protein (p.Val662Met). This variant is present in population databases (rs143585840, gnomAD 0.07%). 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: 839085). 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. 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.
3billion RCV002250718 SCV002521594 uncertain significance Night blindness, congenital stationary, type1i 2022-05-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.022%). In silico tool predictions suggest no damaging effect of the variant on gene or gene product (REVEL: 0.20; 3Cnet: 0.02). Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.
Fulgent Genetics, Fulgent Genetics RCV002489567 SCV002780222 uncertain significance Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i 2021-07-25 criteria provided, single submitter clinical testing

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