ClinVar Miner

Submissions for variant NM_000143.4(FH):c.7C>G (p.Arg3Gly)

gnomAD frequency: 0.00022  dbSNP: rs202166344
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195609 SCV000251490 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000195609 SCV000262348 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000204400 SCV000356748 uncertain significance Fumarase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346414 SCV000356749 uncertain significance Hereditary leiomyomatosis and renal cell cancer 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346414 SCV000356750 uncertain significance Hereditary leiomyomatosis and renal cell cancer 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568788 SCV000673354 likely benign Hereditary cancer-predisposing syndrome 2020-09-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genetic Services Laboratory, University of Chicago RCV001818470 SCV002071328 uncertain significance not specified 2019-10-18 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001818470 SCV002552161 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000346414 SCV003928154 uncertain significance Hereditary leiomyomatosis and renal cell cancer 2023-04-20 criteria provided, single submitter clinical testing The FH c.7C>G (p.Arg3Gly) missense change has a maximum subpopulation frequency of 0.019% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in individuals with hereditary leiomyomatosis and renal cell cancer (HLRCC). In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Baylor Genetics RCV000204400 SCV004197311 uncertain significance Fumarase deficiency 2024-03-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000204400 SCV001458394 uncertain significance Fumarase deficiency 2020-09-16 no assertion criteria provided clinical testing

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