ClinVar Miner

Submissions for variant NM_000143.4(FH):c.309C>T (p.Ala103=) (rs10926501)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125106 SCV000168546 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.
Ambry Genetics RCV000163273 SCV000213801 benign Hereditary cancer-predisposing syndrome 2014-12-01 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000383130 SCV000356718 benign Fumarase deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000269638 SCV000356719 benign Multiple Cutaneous and Uterine Leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327050 SCV000356720 benign Hereditary leiomyomatosis and renal cell cancer 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000383130 SCV000556452 benign Fumarase deficiency 2020-12-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588869 SCV000695630 benign not provided 2016-05-04 criteria provided, single submitter clinical testing Variant summary: The FH c.309C>T (p.Ala103Ala) variant affects a non-conserved nucleotide, resulting in a synonymous mutation with 5/5 in silico tools via Alamut predicting the variant not to have an impact on normal splicing. This variant is found in 1054/121380 control chromosomes (55 homozygotes) at a frequency of 0.0086835, which greatly exceeds the maximal expected frequency of a pathogenic allele (0.0000025), suggesting this variant is benign. In addition, clinical diagnostic laboratories classify variant as benign via ClinVar (without evidence to independently evaluate). Taken together, this variant was classified as Benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001282490 SCV001159161 benign none provided 2020-02-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588869 SCV002047105 benign not provided 2021-05-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories,Mayo Clinic RCV000588869 SCV000802761 benign not provided 2017-08-04 no assertion criteria provided clinical testing
Natera, Inc. RCV000383130 SCV001458385 benign Fumarase deficiency 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000125106 SCV001806954 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000125106 SCV001953232 benign not specified no assertion criteria provided clinical testing

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