ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.5227G>A (p.Val1743Ile) (rs778427434)

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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 RCV000218761 SCV000276462 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-08 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,In silico models in agreement (benign)
Invitae RCV000704616 SCV000833571 uncertain significance Neurofibromatosis, type 1 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1743 of the NF1 protein (p.Val1743Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs778427434, ExAC 0.05%). This variant has not been reported in the literature in individuals with NF1-related disease. ClinVar contains an entry for this variant (Variation ID: 232345). 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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