ClinVar Miner

Submissions for variant NM_016169.3(SUFU):c.1232C>T (p.Thr411Met) (rs368020224)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568227 SCV000675288 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000705071 SCV000834051 uncertain significance Gorlin syndrome; Medulloblastoma 2018-09-03 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 411 of the SUFU protein (p.Thr411Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs368020224, ExAC 0.01%). While this variant has been published in the literature (PMID: 23826113, 22810696), it has not been reported in the germline of an individual with SUFU-related disease. ClinVar contains an entry for this variant (Variation ID: 486528). Experimental studies have shown that this missense change does not disrupt SUFU protein function in a LO68 cell line (PMID: 23826113). 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.
Fulgent Genetics,Fulgent Genetics RCV000763643 SCV000894514 uncertain significance Gorlin syndrome; Medulloblastoma; Meningioma, familial; JOUBERT SYNDROME 32 2018-10-31 criteria provided, single submitter clinical testing

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