ClinVar Miner

Submissions for variant NC_000001.10:g.(?_241663727)_(241680626_?)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 RCV004579041 SCV005066554 pathogenic not provided 2023-08-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FH protein in which other variant(s) (p.Trp500*) have been determined to be pathogenic (PMID: 9635293). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. A similar copy number variant has been observed in individual(s) with FH associated tumor predisposition syndrome (PMID: 24304607). This variant is a gross deletion of the genomic region encompassing exon(s) 2-9 of the FH gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein.

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