ClinVar Miner

Submissions for variant NC_000001.10:g.(?_241676893)_(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 RCV004579039 SCV005066552 pathogenic not provided 2023-07-16 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.Ala117Pro) have been determined to be pathogenic (PMID: 11865300, 21398687, 24334767, 31831373; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with FH-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 2-3 of the FH gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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