ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3834C>G (p.Asn1278Lys) (rs1135402850)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000497120 SCV000824252 pathogenic Neurofibromatosis, type 1 2018-09-25 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 1278 of the NF1 protein (p.Asn1278Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed de novo in an individual affected with neurofibromatosis type 1 (PMID: 28961165). ClinVar contains an entry for this variant (Variation ID: 431630). Experimental studies have shown that this missense change increases the RAS binding affinity of the NF1 protein (PMID: 12787671). For these reasons, this variant has been classified as Pathogenic.
Medical Genetics, University of Parma RCV000497120 SCV000588770 uncertain significance Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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