ClinVar Miner

Submissions for variant NM_000143.3(FH):c.1154C>A (p.Ala385Asp) (rs727503926)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217529 SCV000276015 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Rarity in general population databases (dbSNP, ESP, 1000 Genomes),in silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000445620 SCV000537261 uncertain significance Multiple cutaneous leiomyomas 2017-01-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153234 SCV000202708 uncertain significance not provided 2014-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000153234 SCV000251430 likely pathogenic not provided 2018-03-06 criteria provided, single submitter clinical testing This variant is denoted FH c.1154C>A at the cDNA level, p.Ala385Asp (A385D) at the protein level, and results in the change of an Alanine to an Aspartic Acid (GCC>GAC). This variant has been reported in at least one individual with skin and uterine leiomyomas (Wei 2006). FH Ala385Asp was not observed in large population cohorts (Lek 2016). This variant is located in the core helix (Picaud 2011). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, we consider FH Ala385Asp to be a likely pathogenic variant.

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