ClinVar Miner

Submissions for variant NM_000143.3(FH):c.965T>G (p.Val322Gly) (rs863224003)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196089 SCV000251476 likely pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing This variant is denoted FH c.965T>G at the cDNA level, p.Val322Gly (V322G) at the protein level, and results in the change of a Valine to a Glycine (GTT>GGT). This variant was reported in an individual with papillary type II renal cell carcinoma (Bhola 2018). FH Val322Gly was not observed at a significant allele frequency 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 and internal data, we consider FH Val322Gly to be a likely pathogenic variant.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000445631 SCV000537250 uncertain significance Multiple cutaneous leiomyomas 2017-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019611 SCV001180992 likely pathogenic Hereditary cancer-predisposing syndrome 2019-11-15 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Moderate segregation with disease (at least 3 informative meioses) for rare diseases.;Rarity in general population databases (dbsnp, esp, 1000 genomes)

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