ClinVar Miner

Submissions for variant NM_000143.3(FH):c.664T>A (p.Ser222Thr) (rs1448268784)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699536 SCV000828251 uncertain significance Fumarase deficiency 2019-11-16 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 222 of the FH protein (p.Ser222Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FH-related disease. 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: "Deleterious"; PolyPhen-2: "Benign"; 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.
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761058 SCV000890973 uncertain significance B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 2016-04-11 no assertion criteria provided clinical testing

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