ClinVar Miner

Submissions for variant NM_016169.3(SUFU):c.1028G>A (p.Arg343His) (rs79299301)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566455 SCV000675276 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000763641 SCV000894512 uncertain significance Gorlin syndrome; Medulloblastoma; Meningioma, familial; JOUBERT SYNDROME 32 2018-10-31 criteria provided, single submitter clinical testing
ITMI RCV000122100 SCV000086315 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000260834 SCV000360091 uncertain significance Medulloblastoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000466509 SCV000544991 uncertain significance Gorlin syndrome; Medulloblastoma 2018-11-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 343 of the SUFU protein (p.Arg343His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs79299301, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with a SUFU-related disease. ClinVar contains an entry for this variant (Variation ID: 135285). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on SUFU 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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