ClinVar Miner

Submissions for variant NM_016169.3(SUFU):c.1045A>G (p.Ser349Gly) (rs368178771)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471241 SCV000544983 uncertain significance Gorlin syndrome; Medulloblastoma 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 349 of the SUFU protein (p.Ser349Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs368178771, ExAC 0.01%). This variant has not been reported in the literature in individuals with SUFU-related disease. ClinVar contains an entry for this variant (Variation ID: 135283). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV000562404 SCV000675284 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-25 criteria provided, single submitter clinical testing Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726658 SCV000702010 uncertain significance not provided 2016-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763642 SCV000894513 uncertain significance Gorlin syndrome; Medulloblastoma; Meningioma, familial; JOUBERT SYNDROME 32 2018-10-31 criteria provided, single submitter clinical testing
ITMI RCV000122098 SCV000086313 not provided not specified 2013-09-19 no assertion provided reference population

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