ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.1804C>T (p.Arg602Cys)

gnomAD frequency: 0.00004  dbSNP: rs754298498
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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 RCV002005931 SCV002268993 uncertain significance not provided 2023-12-09 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 602 of the PDE6B protein (p.Arg602Cys). This variant is present in population databases (rs754298498, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PDE6B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1484612). 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 PDE6B protein function with a positive predictive value of 95%. 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.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816877 SCV005070848 uncertain significance Retinal dystrophy 2018-01-01 no assertion criteria provided clinical testing

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