ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.214A>C (p.Met72Leu)

dbSNP: rs727504662
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315183 SCV001505744 likely pathogenic RASopathy 2022-06-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 72 of the KRAS protein (p.Met72Leu). This missense change has been observed in individual(s) with Noonan syndrome (PMID: 22488932). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1016209).

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