ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2803A>C (p.Asn935His) (rs786201823)

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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 RCV000164309 SCV000214940 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Other data supporting benign classification
Invitae RCV000467221 SCV000542066 uncertain significance Neurofibromatosis, type 1 2018-09-07 criteria provided, single submitter clinical testing This sequence change replaces asparagine with histidine at codon 935 of the NF1 protein (p.Asn935His). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and histidine. 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. ClinVar contains an entry for this variant (Variation ID: 184962). 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, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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