ClinVar Miner

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

dbSNP: rs1339924833
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000761136 SCV000891052 uncertain significance Noonan syndrome 2020-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000804507 SCV000944419 uncertain significance RASopathy 2023-09-10 criteria provided, single submitter clinical testing This variant, c.547_552del, 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 present in population databases (no rsID available, gnomAD 0.006%). This variant has been observed in individual(s) with cardio-facio-cutaneous syndrome (PMID: 22495831). ClinVar contains an entry for this variant (Variation ID: 620625). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.
Fulgent Genetics, Fulgent Genetics RCV005004406 SCV002789244 uncertain significance Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Familial pancreatic carcinoma; Gastric cancer; Lung cancer 2024-04-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597873 SCV005092462 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing KRAS: PM4, BS1

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