ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3842C>G (p.Ala1281Gly) (rs1060500341)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561503 SCV000666789 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000468429 SCV000542146 uncertain significance Neurofibromatosis, type 1 2016-12-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 1281 of the NF1 protein (p.Ala1281Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. 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. 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 novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
PreventionGenetics RCV000679386 SCV000806276 uncertain significance not provided 2017-03-17 criteria provided, single submitter clinical testing

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