ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.105_114del (p.Gln36fs)

dbSNP: rs1586047969
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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 RCV001869436 SCV002146589 pathogenic not provided 2022-07-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln36Lysfs*44) 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 variant has not been reported in the literature in individuals affected with CNGB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 812290). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005047186 SCV005674426 likely pathogenic Achromatopsia 3 2024-03-05 criteria provided, single submitter clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002982 SCV001161035 pathogenic Achromatopsia 2019-06-23 no assertion criteria provided research

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