ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1410A>C (p.Glu470Asp) (rs786203090)

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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 RCV000166241 SCV000217021 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-17 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 RCV000809613 SCV000949775 uncertain significance Neurofibromatosis, type 1 2018-12-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 470 of the NF1 protein (p.Glu470Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 186619). 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.

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