ClinVar Miner

Submissions for variant NM_000143.4(FH):c.1514dup (p.Asp505fs)

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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 RCV005126107 SCV005752804 pathogenic not provided 2024-05-05 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the FH gene (p.Asp505Glufs*13). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acid(s) of the FH protein and extend the protein by 6 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FH-related conditions. This variant disrupts a region of the FH protein in which other variant(s) ((p.Leu507Pro) have been determined to be pathogenic (PMID: 12761039; 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. For these reasons, this variant has been classified as Pathogenic.

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