ClinVar Miner

Submissions for variant NM_000143.3(FH):c.1302C>T (p.Cys434=) (rs2070080)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163275 SCV000213803 benign Hereditary cancer-predisposing syndrome 2014-12-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000125104 SCV000168544 benign not specified 2013-04-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000386787 SCV000356661 benign Multiple Cutaneous and Uterine Leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292482 SCV000356662 benign Multiple cutaneous leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338010 SCV000356663 benign Fumarase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589909 SCV000695625 benign not provided 2016-05-04 criteria provided, single submitter clinical testing Variant summary: The c.1302C>T variant affects a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts polymorphism outcome for this variant. 4/5 splice-tools in Alamut predict that this variant does not affect normal splicing. ESE finder predicts changes of binding motifs for RNA splicing enhancers. This variant is found in 1162/121368 control chromosomes (64 homozygotes) at a frequency of 0.0095742, which significantly exceeds the maximal expected frequency of a pathogenic allele (0.0000025), suggesting this variant is a benign polymorphism. In addition, multiple clinical laboratory/reputable database classified this variant as benign. Taken together, this variant was classified as benign.
Invitae RCV000338010 SCV000556439 benign Fumarase deficiency 2018-01-16 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000589909 SCV000802759 benign not provided 2017-08-04 no assertion criteria provided clinical testing

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