ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7150A>G (p.Ile2384Val) (rs565708398)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165705 SCV000216446 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
Fulgent Genetics,Fulgent Genetics RCV000515215 SCV000611413 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000196434 SCV000254509 uncertain significance Neurofibromatosis, type 1 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 2384 of the NF1 protein (p.Ile2384Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs565708398, ExAC 0.06%). This variant has not been reported in the literature in individuals with NF1-related disease. ClinVar contains an entry for this variant (Variation ID: 186162). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Mendelics RCV000196434 SCV000839161 uncertain significance Neurofibromatosis, type 1 2018-07-02 criteria provided, single submitter clinical testing

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