ClinVar Miner

Submissions for variant NM_000143.3(FH):c.560C>G (p.Ser187Ter) (rs398123166)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000445585 SCV000537236 pathogenic Multiple cutaneous leiomyomas 2017-01-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078150 SCV000109988 pathogenic not provided 2012-11-15 criteria provided, single submitter clinical testing
Invitae RCV000554655 SCV000632473 pathogenic Fumarase deficiency 2018-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser187*) in the FH gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs398123166, ExAC 0.01%). This variant has not been reported in the literature in individuals with FH-related disease. ClinVar contains an entry for this variant (Variation ID: 92456). A different variant (c.560C>A) giving rise to the same protein effect observed here (p.Ser187*) has been reported in individuals affected with uterine leiomyomata (Invitae). 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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