ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1196G>C (p.Ser399Thr)

dbSNP: rs1421345157
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001313218 SCV001503702 uncertain significance Gorlin syndrome; Medulloblastoma 2020-01-13 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SUFU-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with threonine at codon 399 of the SUFU protein (p.Ser399Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine.

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