ClinVar Miner

Submissions for variant NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) (rs121434596)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000431020 SCV000503680 pathogenic Cutaneous melanoma 2016-03-10 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440357 SCV000503681 likely pathogenic Acute myeloid leukemia 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422699 SCV000503682 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430350 SCV000503683 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440593 SCV000503684 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421906 SCV000503685 likely pathogenic Medulloblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433031 SCV000503686 likely pathogenic Multiple myeloma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442419 SCV000503687 likely pathogenic Non-Hodgkin lymphoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421229 SCV000503688 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431528 SCV000503689 likely pathogenic Myelodysplastic syndrome 2016-05-31 no assertion criteria provided literature only
GeneDx RCV000157672 SCV000490967 pathogenic not provided 2015-03-30 criteria provided, single submitter clinical testing The G13D variant has been reported as a de novo germline variant in association with autoimmune lymphoproliferative syndrome (ALPS) (Oliveira et al., 2007). In vitro functional studies demonstrated that the presence of the G13D variant resulted in BCL-2-interacting mediator of cell death down-regulation and defective intrinsic mitochondrial apoptosis prominently in lymphocytes, leading to features of ALPS and hematopoietic malignancies (Oliveira et al., 2007). The G13D variant has also been reported as a germline variant in association with dysmorphic features and Juvenile Myelomonocytic Leukemia (JMML) (De Filippi et al., 2009). The G13D variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000157672 SCV000207643 pathogenic not provided 2015-01-15 no assertion criteria provided clinical testing
OMIM RCV000014915 SCV000035171 pathogenic Juvenile myelomonocytic leukemia 2011-03-10 no assertion criteria provided literature only
OMIM RCV000022690 SCV000043979 pathogenic Noonan syndrome 6 2011-03-10 no assertion criteria provided literature only
OMIM RCV000144962 SCV000191989 pathogenic RAS-associated autoimmune leukoproliferative disorder 2011-03-10 no assertion criteria provided literature only

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