Total submissions: 21
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038269 | SCV000061938 | pathogenic | Non-small cell lung carcinoma | 2011-11-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001092389 | SCV001248878 | pathogenic | not provided | 2020-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001266168 | SCV001444340 | pathogenic | Inborn genetic diseases | 2018-07-19 | criteria provided, single submitter | clinical testing | |
Equipe Genetique des Anomalies du Developpement, |
RCV001526657 | SCV001737088 | pathogenic | Nevus sebaceous | criteria provided, single submitter | clinical testing | ||
Revvity Omics, |
RCV001092389 | SCV002016398 | pathogenic | not provided | 2021-09-09 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813183 | SCV002060774 | uncertain significance | Noonan syndrome and Noonan-related syndrome | 2019-12-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001857340 | SCV002117438 | pathogenic | RASopathy | 2023-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 13 of the KRAS protein (p.Gly13Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with oculoectodermal syndrome, as a mosaic variant (PMID: 25808193). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 12580). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KRAS protein function. For these reasons, this variant has been classified as Pathogenic. |
Prevention |
RCV004549358 | SCV004742495 | pathogenic | KRAS-related disorder | 2023-11-15 | criteria provided, single submitter | clinical testing | The KRAS c.38G>A variant is predicted to result in the amino acid substitution p.Gly13Asp. This variant has been reported as a mosaic change in two patients with RAS-associated autoimmune leukoproliferative disorder, oculoectodermal syndrome/encephalocraniocutaneous lipomatosis, and an individual with myelodysplastic/myeloproliferative disease who was also positive for additional variants (Takagi et al. 2011. PubMed ID: 21063026; Peacock et al. 2015. PubMed ID: 25808193; Moog and Moog. 2022. PubMed ID: 35099867; Patient 2, Ismael et al. 2012. PubMed ID: 22571758). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic. |
OMIM | RCV000013409 | SCV000033656 | pathogenic | Breast adenocarcinoma | 2015-07-01 | no assertion criteria provided | literature only | |
OMIM | RCV000144967 | SCV000191994 | pathogenic | Juvenile myelomonocytic leukemia | 2015-07-01 | no assertion criteria provided | literature only | |
OMIM | RCV000144968 | SCV000191995 | pathogenic | Autoimmune lymphoproliferative syndrome type 4 | 2015-07-01 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000421576 | SCV000504458 | pathogenic | Neoplasm of the large intestine | 2016-03-10 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000431806 | SCV000504459 | likely pathogenic | Acute myeloid leukemia | 2014-10-02 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000444192 | SCV000504460 | pathogenic | Neoplasm of ovary | 2014-10-02 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000427102 | SCV000504461 | pathogenic | Thyroid tumor | 2014-10-02 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000038269 | SCV000504462 | pathogenic | Non-small cell lung carcinoma | 2014-10-02 | no assertion criteria provided | literature only | |
OMIM | RCV000791297 | SCV000930607 | pathogenic | OCULOECTODERMAL SYNDROME, SOMATIC | 2015-07-01 | no assertion criteria provided | literature only | |
Department of Pathology and Laboratory Medicine, |
RCV001092389 | SCV001552665 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001092389 | SCV001952799 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001092389 | SCV001972639 | likely pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Gene |
RCV001839444 | SCV002099548 | not provided | Encephalocraniocutaneous lipomatosis | no assertion provided | literature only |