ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.592G>A (p.Gly198Ser)

gnomAD frequency: 0.00005  dbSNP: rs199690401
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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 RCV001238703 SCV001411530 uncertain significance not provided 2025-01-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 198 of the PDE6B protein (p.Gly198Ser). This variant is present in population databases (rs199690401, gnomAD 0.02%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 33177553, 33946315). ClinVar contains an entry for this variant (Variation ID: 964476). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PDE6B 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.
Dept Of Ophthalmology, Nagoya University RCV003887946 SCV004705750 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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