ClinVar Miner

Submissions for variant NM_000143.4(FH):c.240G>C (p.Lys80Asn)

dbSNP: rs1573888362
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233377 SCV001405967 uncertain significance Fumarase deficiency 2019-07-28 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 80 of the FH protein (p.Lys80Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. 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 conditions. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002480762 SCV002774596 uncertain significance not provided 2021-07-10 criteria provided, single submitter clinical testing

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