ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.-37-1G>C

dbSNP: rs1553447991
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000592774 SCV000700216 likely pathogenic Achromatopsia 2018-03-20 criteria provided, single submitter research
Invitae RCV001700230 SCV002120383 uncertain significance not provided 2021-10-12 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the CNGA3 gene. It does not directly change the encoded amino acid sequence of the CNGA3 protein. RNA analysis indicates that this variant induces altered splicing and is likely to result in the loss of the initiator methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with macular dystrophy (PMID: 30418171). ClinVar contains an entry for this variant (Variation ID: 503559). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of part of exon 2, and is expected to result in the loss of the initiator methionine (PMID: 30418171). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Clinical Genetics, Academic Medical Center RCV001700230 SCV001925685 likely pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001700230 SCV001953324 pathogenic not provided no assertion criteria provided clinical testing

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