ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.485C>T (p.Ser162Leu)

gnomAD frequency: 0.00001  dbSNP: rs772012465
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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) RCV000175574 SCV000227085 uncertain significance not provided 2014-10-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000175574 SCV002207097 uncertain significance not provided 2023-05-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 162 of the PDE6B protein (p.Ser162Leu). This variant is present in population databases (rs772012465, gnomAD 0.03%). 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: 195056). 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 PDE6B 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.
Dept Of Ophthalmology, Nagoya University RCV003888623 SCV004705747 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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