ClinVar Miner

Submissions for variant NM_006912.6(RIT1):c.-43-74G>A

gnomAD frequency: 0.00003  dbSNP: rs730881012
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000601244 SCV000712150 uncertain significance not specified 2016-05-26 criteria provided, single submitter clinical testing The p.Arg3Lys variant in RIT1 has not been previously reported in individuals wi th Noonan spectrum disorders, but has been identified in 8/49232 chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 730881012). This variant is located in the last base of the exon, which is part of the 5? splice region. Computational tools do not suggest an impact to splicin g or an impact to the protein. However, this information is not predictive enoug h to rule out pathogenicity. In summary, the clinical significance of the p.Arg3 Lys variant is uncertain.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005394545 SCV006054537 likely benign Noonan syndrome 8 2020-08-23 criteria provided, single submitter research

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