ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.353A>G (p.Gln118Arg)

gnomAD frequency: 0.00305  dbSNP: rs142837782
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884300 SCV001027669 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028334 SCV004929139 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The c.353A>G (p.Q118R) alteration is located in exon 4 (coding exon 3) of the CNGA3 gene. This alteration results from a A to G substitution at nucleotide position 353, causing the glutamine (Q) at amino acid position 118 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001729732 SCV001571320 benign Achromatopsia 2 2021-04-15 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV003940487 SCV004748205 benign CNGA3-related disorder 2019-05-30 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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