ClinVar Miner

Submissions for variant NM_005188.3(CBL):c.1227+4C>T (rs201747825)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000049227 SCV000077241 benign Rasopathy 2012-04-17 criteria provided, single submitter clinical testing The variant is found in NOONAN panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000290489 SCV000367757 likely benign Noonan-Like Syndrome Disorder 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000049227 SCV000288828 likely benign Rasopathy 2017-12-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038348 SCV000062020 likely benign not specified 2014-03-21 criteria provided, single submitter clinical testing 1227+4C>T in intron 8 of CBL: This variant has now been identified by our labora tory in several individuals with clinical features of Noonan syndrome. However, this variant was identified in two unaffected parents, and two of the affected i ndividuals with this variant also had a pathogenic variant in another gene assoc iated with Noonan syndrome (LMM unpublished data). This variant has also been re ported in a patient with clinical features of juvenile myelomonocytic leukemia ( JMML; Loh 2009), but has been identified in 0.05% (4/8590) of European American chromosomes from a large population study by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs201747825). This variant is located in the 5' splice region, though computational tools do not suggest an impact to splicing. In summary, this variant is not expected to have clinical significance because it has been identified in the general population and in two reportedly unaffected parents.

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