ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.1010A>G (p.His337Arg)

dbSNP: rs1736178477
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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 RCV002570627 SCV003525403 likely pathogenic not provided 2024-05-06 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 337 of the PDE6B protein (p.His337Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal recessive PDE6B-related conditions (PMID: 27874104, 30998820, 36819107). ClinVar contains an entry for this variant (Variation ID: 979004). 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 with a negative predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Faculty of Health Sciences, Beirut Arab University RCV001257885 SCV001434636 pathogenic Autosomal recessive retinitis pigmentosa 2016-11-22 no assertion criteria provided literature only

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