ClinVar Miner

Submissions for variant NC_000001.11:g.(?_241505997)_(241506174_?)del

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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 RCV000551893 SCV000632430 pathogenic Fumarase deficiency 2018-04-06 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 6 of the FH gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This particular deletion has been reported in the literature in an individual affected with leiomyomatosis and renal cell cancer (PMID: 22382802). Loss-of-function variants in FH are known to be pathogenic (PMID: 11865300, 21398687). For these reasons, this variant has been classified as Pathogenic.

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