Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000523549 | SCV000616403 | likely benign | RASopathy | 2017-04-03 | reviewed by expert panel | curation | The c.451-14T>C variant in KRAS has been seen in 3 cases undergoing RASopathy panel testing (PS4 not met; LMM, GeneDx internal data; GTR ID: 26957, 21766; ClinVar SCV000170023.9, SCV000198459.4) is an intronic variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7). Computational prediction tools and conservation analysis suggest that the variant does not impact the protein (BP4). In summary, this variant meets criteria to be classified as likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BP4, BP7. |
Gene |
RCV000150885 | SCV000170023 | benign | not specified | 2014-04-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Laboratory for Molecular Medicine, |
RCV000150885 | SCV000198459 | likely benign | not specified | 2013-07-17 | criteria provided, single submitter | clinical testing | 451-14T>C in intron 06 of KRAS: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence and ha s been identified in 0.05% (4/8570) of European American chromosomes by the NHLB I Exome Sequencing Project (http://evs.gs.washington.edu/EVS). |
Invitae | RCV000523549 | SCV002362103 | likely benign | RASopathy | 2023-10-14 | criteria provided, single submitter | clinical testing |