ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.412del (p.Arg138fs)

dbSNP: rs1057516791
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409440 SCV000486227 likely pathogenic Achromatopsia 3 2016-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861379 SCV002231796 pathogenic not provided 2024-03-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg138Glufs*14) 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 (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CNGB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 370817). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000409440 SCV005679227 likely pathogenic Achromatopsia 3 2024-02-14 criteria provided, single submitter clinical testing

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