ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.5344A>G (p.Ile1782Val) (rs559910904)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130513 SCV000185382 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000472736 SCV000542224 uncertain significance Neurofibromatosis, type 1 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 1782 of the NF1 protein (p.Ile1782Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs559910904, ExAC 0.01%). This variant has been reported in individuals affected with breast cancer (Invitae). ClinVar contains an entry for this variant (Variation ID: 141837). 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.
Blueprint Genetics RCV000788617 SCV000927792 uncertain significance not provided 2018-07-15 criteria provided, single submitter clinical testing

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