ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3641T>G (p.Met1214Arg) (rs1567851416)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691988 SCV000819793 likely pathogenic Neurofibromatosis, type 1 2018-07-16 criteria provided, single submitter clinical testing This sequence change replaces methionine with arginine at codon 1214 of the NF1 protein (p.Met1214Arg). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual with clinical features of neurofibromatosis type 1 (Invitae). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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