ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1447T>G (p.Tyr483Asp)

gnomAD frequency: 0.00001  dbSNP: rs373270306
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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 RCV001856918 SCV002255765 likely pathogenic not provided 2021-07-14 criteria provided, single submitter clinical testing 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. 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 CNGB3 protein function. ClinVar contains an entry for this variant (Variation ID: 427676). This variant has been observed in individuals with achromatopsia (PMID: 28795510). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with aspartic acid at codon 483 of the CNGB3 protein (p.Tyr483Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid.
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000498512 SCV000575814 likely pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research

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