ClinVar Miner

Submissions for variant NC_000001.11:g.(?_241497818)_(241519732_?)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 RCV000823953 SCV000964828 pathogenic Fumarase deficiency 2019-07-19 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the FH gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has been observed in several families affected with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome (PMID: 11865300, 28300276, 21398687, 12761039) and in a family affected with fumarate deficiency (PMID: 22069215). 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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