ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3836G>A (p.Ser1279Asn)

dbSNP: rs1170788683
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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 RCV000632284 SCV000753459 uncertain significance Neurofibromatosis, type 1 2017-10-31 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 1279 of the NF1 protein (p.Ser1279Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. 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 disease. 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: "Possibly 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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