ClinVar Miner

Submissions for variant NM_000143.3(FH):c.809_810del (p.Ile269_Tyr270insTer) (rs1553341163)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522295 SCV000619229 likely pathogenic not provided 2017-07-12 criteria provided, single submitter clinical testing The Y270X nonsense variant in the FH gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y270X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Based on currently available evidence, Y270X is a strong candidate for a pathogenic variant. However, the possibility it could be a rare benign variant cannot be excluded.

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