ClinVar Miner

Submissions for variant NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) (rs730880471)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157937 SCV000207872 likely pathogenic not provided 2012-06-21 criteria provided, single submitter clinical testing A D119N missense change likely associated with a KRAS-related disorder was identified in the KRAS gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D119N amino acid substitution is non-conservative with a negatively charged residue (Asp) being replaced by a neutral residue (Asn) at a position in the protein that is highly conserved across species. Another mutation in a nearby codon (N116S) has been reported in association with Noonan syndrome and in vitro studies showed that it exhibits gain-of-function activity (Razzaque et al., 2012). Therefore, D119N is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded.The variant is found in NOONAN panel(s).
Baylor Genetics RCV000850568 SCV000992784 likely pathogenic Noonan syndrome 3; RAS-associated autoimmune leukoproliferative disorder; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2 2017-12-31 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network,NIH RCV001269478 SCV001449491 likely pathogenic KRAS-related RASopathy 2020-09-23 criteria provided, single submitter clinical testing
GenomeConnect - CFC International RCV000999628 SCV001156338 not provided Noonan syndrome 3 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 09-18-2012 by Lab or GTR ID 1006. GenomeConnect-CFC International assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant.

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