ClinVar Miner

Submissions for variant NM_000143.3(FH):c.739-2A>C (rs1553341174)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537500 SCV000632489 likely pathogenic Fumarase deficiency 2017-04-24 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the FH gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a FH-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in FH are known to be pathogenic (PMID: 11865300, 21398687). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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