ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.248G>A (p.Trp83Ter)

gnomAD frequency: 0.00001  dbSNP: rs757470958
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001854800 SCV002163005 pathogenic not provided 2023-06-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 236461). This premature translational stop signal has been observed in individual(s) with clinical features of retinitis pigmentosa (PMID: 27208204). This variant is present in population databases (rs757470958, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Trp83*) in the CNGA3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNGA3 are known to be pathogenic (PMID: 14757870, 24903488, 25637600).
GeneDx RCV001854800 SCV003761928 pathogenic not provided 2022-07-30 criteria provided, single submitter clinical testing Identified in a patient with retinal dystrophy in the published literature (Ellingford et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30711023, 27208204)
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225523 SCV000282567 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing

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