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

gnomAD frequency: 0.00002  dbSNP: rs745636376

Total submissions: 3

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