ClinVar Miner

Submissions for variant NM_000143.3(FH):c.1339A>T (p.Lys447Ter) (rs863223977)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000493806 SCV000581671 likely pathogenic Hereditary cancer-predisposing syndrome 2016-08-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Structural Evidence,Other strong data supporting pathogenic classification,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Detected in individual(s) satisfying established diagnostic criteria for classic disease in trans with a mutation or mutation is homozygous,Rare (0.1%) in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000810856 SCV000951093 pathogenic Fumarase deficiency 2018-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys447*) in the FH gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FH-related disease. ClinVar contains an entry for this variant (Variation ID: 214386). Loss-of-function variants in FH are known to be pathogenic (PMID: 11865300, 21398687). For these reasons, this variant has been classified as Pathogenic.

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