ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4277A>G (p.Gln1426Arg) (rs786204157)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168155 SCV000218816 likely pathogenic Neurofibromatosis, type 1 2014-11-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 1426 of the NF1 protein (p.Gln1426Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This sequence change has been reported in the literature and is not present in population databases. This sequence change was reported in an individual affected with neurofibtomatosis type 1. Whether this variant segregates with disease remains uncertain (PMID: 23047742). This missense change falls in the Ras binding region of the NF1 protein (PMID: 9687500). Experimental studies have shown that this missense change causes loss of NF1 protein function in vitro and in vivo (PMID: 8437860, 17114577). For these reasons, this sequence change has been classified as Likely Pathogenic.

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