ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.107C>G (p.Thr36Ser) (rs199966218)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129384 SCV000184150 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-10 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV000196537 SCV000253198 likely benign Neurofibromatosis, type 1 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000680810 SCV000808255 uncertain significance not provided 2018-03-16 criteria provided, single submitter clinical testing This variant is denoted NF1 c.107C>G at the cDNA level, p.Thr36Ser (T36S) at the protein level, and results in the change of a Threonine to a Serine (ACT>AGT). This variant was observed in two relatives with neurofibromatosis type 1 (Cai 2005). NF1 Thr36Ser was observed at an allele frequency of 0.15% (38/25,742) in individuals of Finnish ancestry in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether NF1 Thr36Ser is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Medical Genetics, University of Parma RCV000196537 SCV000588693 likely pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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