ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.214A>T (p.Met72Leu) (rs727504662)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155926 SCV000205637 pathogenic Noonan syndrome 2015-11-12 criteria provided, single submitter clinical testing The p.Met72Leu variant in KRAS (c.214A>T) has been identified by our laboratory in 1 individual with clinical features of Noonan syndrome and segregated with di sease in 1 affected relative. Additionally, a different nucleotide change (c.214 A>C ) resulting in the same p.Met72Leu variant has also been reported in 1 indiv idual with clinical features of Noonan syndrome, who was de novo for the variant , and passed the variant on to 2 relatives with clinical features of Noonan sy ndrome (Brasil 2012). Both variants were absent from large population studies. I n summary, this variant meets our criteria to be classified as pathogenic for No onan syndrome in an autosomal dominant manner based upon de novo occurrence, seg regation studies, and absence from controls.

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