ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.778dup (p.Asp260fs)

dbSNP: rs756172609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268707 SCV001447835 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV002283538 SCV002572521 likely pathogenic Achromatopsia 2 2022-09-01 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). It is predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region. The variant has been reported to be associated with CNGA3-related disorder (ClinVar ID: VCV000987366). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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