ClinVar Miner

Submissions for variant NM_000143.3(FH):c.555+1G>A (rs1375252870)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522660 SCV000617487 likely pathogenic not provided 2017-09-28 criteria provided, single submitter clinical testing This variant is denoted FH c.555+1G>A or IVS4+1G>A and consists of a G>A nucleotide substitution atthe +1 position of intron 4 of the FH gene. This variant destroys a canonical splice donor site and is predicted to causeabnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay orto an abnormal protein product. This variant has been reported in at least one individual with a personal history ofcutaneous and uterine leiomyomas, and a fumarate hydratase enzyme assay found this variant's activity was reduced,compared to control activity (Badeloe 2006, Muller 2017). Based on the currently available information, we considerFH c.555+1G>A to be a likely pathogenic variant.

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