ClinVar Miner

Submissions for variant NM_000143.4(FH):c.1456_1458del (p.Ala486del)

dbSNP: rs2147911262
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001590258 SCV001826056 uncertain significance not provided 2020-08-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001590258 SCV003197692 pathogenic not provided 2022-08-21 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.Ala486Asp) have been determined to be pathogenic (PMID: 20109895; 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. ClinVar contains an entry for this variant (Variation ID: 1217999). This variant has not been reported in the literature in individuals affected with FH-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1456_1458del, results in the deletion of 1 amino acid(s) of the FH protein (p.Ala486del), but otherwise preserves the integrity of the reading frame.

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