ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter)

gnomAD frequency: 0.00002  dbSNP: rs768345097
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169194 SCV000220441 likely pathogenic Achromatopsia 3 2014-06-22 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV001380985 SCV001579228 pathogenic not provided 2024-03-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg216*) 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 present in population databases (rs768345097, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with achromatopsia (PMID: 15657609, 28795510). 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: 188844). For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000169194 SCV000575825 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research
Natera, Inc. RCV001831988 SCV002076098 pathogenic Achromatopsia 2020-03-18 no assertion criteria provided clinical testing

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