ClinVar Miner

Submissions for variant NM_000143.4(FH):c.776T>A (p.Met259Lys)

dbSNP: rs1407485828
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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 RCV000796601 SCV000936121 uncertain significance Fumarase deficiency 2018-08-15 criteria provided, single submitter clinical testing This sequence change replaces methionine with lysine at codon 259 of the FH protein (p.Met259Lys). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and lysine. 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.

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