ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1117G>A (p.Val373Met)

gnomAD frequency: 0.00005  dbSNP: rs552553452
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073683 SCV001239237 uncertain significance Retinal dystrophy 2019-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001228298 SCV001400693 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 373 of the CNGA3 protein (p.Val373Met). This variant is present in population databases (rs552553452, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of achromatopsia (PMID: 35332618; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 866006). 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 CNGA3 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001729792 SCV001571293 likely pathogenic Achromatopsia 2 2021-04-15 no assertion criteria provided research

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