ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3932C>T (p.Ser1311Phe) (rs587782894)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132533 SCV000187630 uncertain significance Hereditary cancer-predisposing syndrome 2014-04-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000230492 SCV000284450 uncertain significance Neurofibromatosis, type 1 2016-02-18 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 1311 of the NF1 protein (p.Ser1311Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NF1-related disease. ClinVar contains an entry for this variant (Variation ID: 143014). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance.

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