ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1444A>G (p.Thr482Ala) (rs770201871)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568934 SCV000662950 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient or conflicting evidence
Illumina Clinical Services Laboratory,Illumina RCV000361439 SCV000401705 uncertain significance Café-au-lait macules with pulmonary stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266747 SCV000401706 uncertain significance Neurofibromatosis, familial spinal 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303184 SCV000401707 uncertain significance Neurofibromatosis-Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357860 SCV000401708 uncertain significance Neurofibromatosis, type 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000357860 SCV000542180 uncertain significance Neurofibromatosis, type 1 2018-11-29 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 482 of the NF1 protein (p.Thr482Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs770201871, ExAC 0.006%). This variant has not been reported in the literature in individuals with NF1-related disease. ClinVar contains an entry for this variant (Variation ID: 322569). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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