ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1426C>T (p.Gln476Ter)

dbSNP: rs1554610284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002523427 SCV003440805 pathogenic not provided 2021-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln476*) in the CNGB3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNGB3 are known to be pathogenic (PMID: 28795510). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of achromatopsia (PMID: 28341476, 28795510). ClinVar contains an entry for this variant (Variation ID: 427691). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000497367 SCV005679209 pathogenic Achromatopsia 3 2024-05-29 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000497367 SCV000575835 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research

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