ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.195+12_195+13delinsTT

dbSNP: rs1949271281
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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 RCV001260436 SCV001437433 uncertain significance not specified 2022-05-31 criteria provided, single submitter clinical testing Variant summary: CBL c.195+12_195+13delinsTT alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing, however, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00011 in 178174 control chromosomes (gnomAD), predominantly at a frequency of 0.0016 within the East Asian subpopulation in the gnomAD database, including 1 homozygote. To our knowledge, no occurrence of c.195+12_195+13delinsTT in individuals affected with Noonan Syndrome-Like Disorder and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002069377 SCV002341731 likely benign RASopathy 2024-01-14 criteria provided, single submitter clinical testing

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