ClinVar Miner

Submissions for variant NM_000143.3(FH):c.1250T>G (p.Leu417Ter) (rs1553340709)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497497 SCV000589892 likely pathogenic not provided 2016-06-16 criteria provided, single submitter clinical testing The L417X nonsense variant in the FH gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although this nonsense variant has not been reported previously to our knowledge, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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