ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4574T>C (p.Leu1525Pro) (rs876660760)

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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 RCV000216997 SCV000278439 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-22 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
Invitae RCV001039214 SCV001202732 uncertain significance Neurofibromatosis, type 1 2019-01-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 1525 of the NF1 protein (p.Leu1525Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 233964). 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 available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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