ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4288A>G (p.Asn1430Asp) (rs1567862283)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689691 SCV000817354 likely pathogenic Neurofibromatosis, type 1 2018-01-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 1430 of the NF1 protein (p.Asn1430Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with neurofibromatosis type 1 (PMID: 21567923, 27322474, 23913538, Invitae). Experimental studies have shown that this missense change abolishes catalytic activity of the NF1 protein (PMID: 12787671). 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.

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