ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.1A>T (p.Met1Leu)

gnomAD frequency: 0.00002  dbSNP: rs745636376
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001358933 SCV001554790 uncertain significance not provided 2021-12-24 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the CNGB1 mRNA. The next in-frame methionine is located at codon 21. This variant is present in population databases (rs745636376, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with CNGB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1050960). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001358933 SCV001953554 likely pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001358933 SCV001968865 pathogenic not provided no assertion criteria provided clinical testing

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