ClinVar Miner

Submissions for variant NM_033360.4(KRAS):c.*101_*106del (rs1339924833)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000761136 SCV000891052 uncertain significance Noonan syndrome 2020-09-22 criteria provided, single submitter clinical testing
Invitae RCV000804507 SCV000944419 uncertain significance Rasopathy 2018-09-06 criteria provided, single submitter clinical testing This variant, c.547_552delACAAAG, results in the deletion of 2 amino acid(s) of the KRAS protein (p.Thr183_Lys184del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with cardio-facio-cutaneous syndrome (PMID: 22495831). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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