ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1519del (p.Asp507fs)

dbSNP: rs745592705
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001587382 SCV001816084 pathogenic Achromatopsia 2 2021-06-04 criteria provided, single submitter clinical testing
Invitae RCV002550194 SCV003229228 pathogenic not provided 2022-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CNGA3 protein in which other variant(s) (p.Arg661Ser) have been determined to be pathogenic (PMID: 24676353, 30711023; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1064470). This variant has not been reported in the literature in individuals affected with CNGA3-related conditions. This variant is present in population databases (rs745592705, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Asp507Ilefs*47) in the CNGA3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 188 amino acid(s) of the CNGA3 protein.
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001587382 SCV001571302 likely pathogenic Achromatopsia 2 2021-04-15 no assertion criteria provided research

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