ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) (rs200302954)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222839 SCV000273921 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034582 SCV000043388 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034582 SCV000511772 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000765346 SCV000896610 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2018-10-31 criteria provided, single submitter clinical testing
GeneKor MSA RCV000222839 SCV000822093 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000200298 SCV000254491 uncertain significance Neurofibromatosis, type 1 2018-12-11 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 862 of the NF1 protein (p.Thr862Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. This variant is present in population databases (rs200302954, ExAC 0.005%). This variant has been reported in the literature in an individual with neurofibromatosis type 1 (PMID: 23656349). ClinVar contains an entry for this variant (Variation ID: 41670). 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"). 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.
PreventionGenetics RCV000034582 SCV000806267 uncertain significance not provided 2017-09-08 criteria provided, single submitter clinical testing

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