ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.332_333delinsAA (p.Ser111Ter)

dbSNP: rs1692508715
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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 RCV001074037 SCV001239605 likely pathogenic Retinal dystrophy 2018-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862817 SCV002177817 pathogenic not provided 2022-10-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ser111*) in the CNGA3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNGA3 are known to be pathogenic (PMID: 14757870, 24903488, 25637600). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with CNGA3-related conditions. ClinVar contains an entry for this variant (Variation ID: 866218).
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001729793 SCV001571263 pathogenic Achromatopsia 2 2021-04-15 no assertion criteria provided research

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