ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2381C>T (p.Ser794Phe)

dbSNP: rs201620100
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001797911 SCV002041683 uncertain significance not specified 2021-11-22 criteria provided, single submitter clinical testing Variant summary: CBL c.2381C>T (p.Ser794Phe) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 251470 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2381C>T in individuals affected with Noonan Syndrome And Related Conditions and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003539410 SCV004285823 likely benign RASopathy 2023-08-30 criteria provided, single submitter clinical testing

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