ClinVar Miner

Submissions for variant NM_000143.3(FH):c.927G>A (p.Pro309=) (rs61737760)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131065 SCV000185995 benign Hereditary cancer-predisposing syndrome 2014-11-21 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179718 SCV000232010 benign not specified 2014-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000179718 SCV000168542 benign not specified 2012-05-11 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 RCV000346503 SCV000356703 benign Multiple cutaneous leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382481 SCV000356704 benign Fumarase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289102 SCV000356705 benign Multiple Cutaneous and Uterine Leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589837 SCV000695631 benign not provided 2016-05-04 criteria provided, single submitter clinical testing Variant summary: The FH variant, c.927G>A (p.Pro309Pro) causes a synonymous change involving a non-conserved nucleotide with 5/5 in silico tools via Alamut predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 4203/120454 (1/28, 104 homozygotes), which exceeds the estimated maximum expected allele frequency for a pathogenic FH variant of 1/400000. In addition, multiple reputable clinical laboratories cite the variant as "benign." Therefore, the variant of interest is classified as Benign.
Invitae RCV000382481 SCV000556450 benign Fumarase deficiency 2017-08-21 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000589837 SCV000802760 benign not provided 2016-02-26 no assertion criteria provided clinical testing
PreventionGenetics RCV000179718 SCV000302645 benign not specified criteria provided, single submitter clinical testing

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