ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.57G>C (p.Leu19Phe)

gnomAD frequency: 0.00001  dbSNP: rs121913538
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003654222 SCV004560196 pathogenic RASopathy 2023-01-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on KRAS function (PMID: 20147967, 21371307, 34117033). 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. ClinVar contains an entry for this variant (Variation ID: 217822). This missense change has been observed in individual(s) with oculoectodermal syndrome (PMID: 25808193). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 19 of the KRAS protein (p.Leu19Phe).
OMIM RCV000201922 SCV000256630 pathogenic OCULOECTODERMAL SYNDROME, SOMATIC 2015-07-01 no assertion criteria provided literature only
GeneReviews RCV001839449 SCV002099549 not provided Encephalocraniocutaneous lipomatosis no assertion provided literature only

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