ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6160A>G (p.Met2054Val)

dbSNP: rs1037341012
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210251 SCV001381730 uncertain significance Neurofibromatosis, type 1 2019-08-23 criteria provided, single submitter clinical testing 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NF1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with valine at codon 2033 of the NF1 protein (p.Met2033Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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