ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3242C>G (p.Ala1081Gly) (rs769941435)

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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 RCV000569124 SCV000663135 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000556844 SCV000628506 uncertain significance Neurofibromatosis, type 1 2018-08-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 1081 of the NF1 protein (p.Ala1081Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs769941435, ExAC 0.02%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; 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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