ClinVar Miner

Submissions for variant NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) (rs104894361)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000520745 SCV000616404 pathogenic Noonan syndrome 2017-04-03 reviewed by expert panel curation The c.15A>T (p.Lys5Asn) variant in KRAS has been reported in the literature in at least 2 unconfirmed de novo occurrences in patients with clinical features of a RASopathy (PM6_Strong; GeneDx, Institute of Human Genetics, Otto von Guericke University Magdeburg internal data GTR ID: 26957, 506381 PMID 17056636). The variant has been detected in This variant was absent from large population studies (PM2; ExAC, http://exac.broadinstitute.org). The p.Lys5Asn variant has been identified in at least 4 independent occurrences in patients with a RASopathy (PS4_Moderate; EGL genetics internal data GTR ID: 500060; PMID: 17056636; ClinVar SCV000202928.6). Computational prediction tools and conservation analysis suggest that the p.Lys5Asn variant may impact the protein (PP3). The variant is located in the KRAS gene, which has been defined by the ClinGen RASopathy Expert Panel as a gene with a low rate of benign missense variants and pathogenic missense variants are common (PP2; PMID: 29493581). In summary, this variant meets criteria to be classified as pathogenic for RASopathies in an autosomal dominant manner. Rasopathy-specific ACMG/AMP criteria applied (PMID:29493581): PM6_Strong, PM2, PS4_Moderate, PP3, PP2)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153427 SCV000202928 uncertain significance not provided 2014-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623267 SCV000742406 likely pathogenic Inborn genetic diseases 2017-05-05 criteria provided, single submitter clinical testing
OMIM RCV000013425 SCV000033672 pathogenic Cardiofaciocutaneous syndrome 2 2008-05-01 no assertion criteria provided literature only

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