ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3468C>A (p.Asn1156Lys) (rs147955381)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632407 SCV000753586 likely pathogenic Neurofibromatosis, type 1 2018-05-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 1156 of the NF1 protein (p.Asn1156Lys). The asparagine residue is moderately 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 is observed to be de novo in an individual affected with NF1-related disease (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: "Probably 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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