ClinVar Miner

Submissions for variant NM_016284.5(CNOT1):c.4432C>T (p.Arg1478Cys)

gnomAD frequency: 0.00001  dbSNP: rs1567396193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001257581 SCV001434390 pathogenic Vissers-Bodmer syndrome 2020-09-29 no assertion criteria provided literature only
Clinical Genomics Laboratory, Stanford Medicine RCV001257581 SCV004101382 uncertain significance Vissers-Bodmer syndrome 2020-12-07 no assertion criteria provided clinical testing The p.Arg1473Cys variant in the CNOT1 gene has been previously reported de novo in 1 individual with Vissers-Bodmersyndrome (Vissers et al., 2020). The p.Arg1473Cys variant has been identified in 1/113,550 European chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org/). The CNOT1 gene has fewer missense variants in the general population than expected. A low rate of missense variation may suggest that this gene is intolerant to missense variation. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Arg1473Cys variant is uncertain; however, there is suspicion that this variant could be associated with Vissers-Bodmer syndrome due to this variant being identified de novo in a published individual with features consistent with Vissers-Bodmer syndrome. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PM2;PP2]

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