ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4882G>A (p.Gly1628Arg) (rs770124316)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464668 SCV000542057 uncertain significance Neurofibromatosis, type 1 2018-05-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1628 of the NF1 protein (p.Gly1628Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs770124316, ExAC 0.02%). This variant has been reported in an individual affected with neurofibromatosis type 1 (PMID: 10336779). ClinVar contains an entry for this variant (Variation ID: 404480). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV001023198 SCV001185038 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-23 criteria provided, single submitter clinical testing Insufficient evidence

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