ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3016G>A (p.Val1006Ile)

dbSNP: rs1060500383
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476983 SCV000542233 uncertain significance Neurofibromatosis, type 1 2016-05-11 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an NF1-related disease. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This sequence change replaces valine with isoleucine at codon 1006 of the NF1 protein (p.Val1006Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine.

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