ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4265C>T (p.Ser1422Leu) (rs1555618566)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632429 SCV000753609 likely pathogenic Neurofibromatosis, type 1 2018-10-02 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 1422 of the NF1 protein (p.Ser1422Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). Family studies have indicated that this variant was not present in the parents of an individual with clinical features consistent with neurofibromatosis type 1, which suggests that it was de novo in that affected individual (Invitae). ClinVar contains an entry for this variant (Variation ID: 527535). 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: "Benign"; 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.
Mendelics RCV000632429 SCV000839148 uncertain significance Neurofibromatosis, type 1 2018-07-02 criteria provided, single submitter clinical testing

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