ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.60del (p.Met21fs)

dbSNP: rs1962422577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
INSERM U1051, Institut des Neurosciences de Montpellier RCV001249871 SCV001424146 likely pathogenic Retinitis pigmentosa 2020-06-24 criteria provided, single submitter research
Invitae RCV003558761 SCV004279835 pathogenic not provided 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met21Cysfs*75) in the CNGB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNGB1 are known to be pathogenic (PMID: 15557452, 24043777). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 36819107). ClinVar contains an entry for this variant (Variation ID: 973356). For these reasons, this variant has been classified as Pathogenic.

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