ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1749del (p.Leu584fs)

dbSNP: rs2104250161
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Total submissions: 3
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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 RCV001733803 SCV001984759 pathogenic Achromatopsia 2021-10-28 criteria provided, single submitter clinical testing in combination with c.848G>A, p.Arg283Gln
Labcorp Genetics (formerly Invitae), Labcorp RCV002543925 SCV003198238 pathogenic not provided 2022-07-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu584Serfs*23) in the CNGA3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 111 amino acid(s) of the CNGA3 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CNGA3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1301856). This variant disrupts a region of the CNGA3 protein in which other variant(s) (p.Arg661His) have been determined to be pathogenic (PMID: 32913385; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815613 SCV005071307 pathogenic Retinal dystrophy 2020-01-01 no assertion criteria provided clinical testing

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