ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter)

dbSNP: rs786204498
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169174 SCV000220405 likely pathogenic Achromatopsia 3 2014-06-11 criteria provided, single submitter literature only
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000596854 SCV000700209 pathogenic Achromatopsia 2018-03-20 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001380986 SCV001579229 pathogenic not provided 2022-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln38*) 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 achrompatopsia (PMID: 15657609, 28795510, 30418171). 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: 188828). For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000169174 SCV000575819 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research

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