ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.5360C>T (p.Thr1787Met) (rs760649828)

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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 RCV000220372 SCV000273199 uncertain significance Hereditary cancer-predisposing syndrome 2015-01-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Invitae RCV000534333 SCV000628659 uncertain significance Neurofibromatosis, type 1 2018-10-11 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 1787 of the NF1 protein (p.Thr1787Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs760649828, ExAC 0.001%). This variant has been reported in an individual affected with neurofibromatosis type I (PMID: 16835897). ClinVar contains an entry for this variant (Variation ID: 229848). Experimental studies have shown that this missense change does not affect the interactions of NF1 with either the valosin-containing protein (PMID: 22105171) or with the serotonin 5 hydroxytryptamine 6 receptor (PMID: 27791021), however the clinical significance of these results are unknown. In summary, this variant has uncertain impact on NF1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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