ClinVar Miner

Submissions for variant NM_016169.3(SUFU):c.1379A>G (p.Lys460Arg) (rs778125780)

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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 RCV000561960 SCV000675281 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Fulgent Genetics,Fulgent Genetics RCV000763644 SCV000894515 uncertain significance Gorlin syndrome; Medulloblastoma; Meningioma, familial; JOUBERT SYNDROME 32 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000545540 SCV000623109 uncertain significance Gorlin syndrome; Medulloblastoma 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 460 of the SUFU protein (p.Lys460Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs778125780, ExAC 0.009%). This variant has not been reported in the literature in individuals with SUFU-related conditions. ClinVar contains an entry for this variant (Variation ID: 453960). This variant has been reported to affect SUFU protein function (PMID: 29654263). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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