ClinVar Miner

Submissions for variant NM_000143.3(FH):c.1236+14C>T (rs149241949)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125103 SCV000168543 benign not specified 2013-11-02 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 RCV000321851 SCV000356700 likely benign Multiple cutaneous leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376619 SCV000356701 likely benign Fumarase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291532 SCV000356702 likely benign Multiple Cutaneous and Uterine Leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586848 SCV000695629 benign not provided 2016-05-04 criteria provided, single submitter clinical testing Variant summary: The FH variant, c.1236+14C>T is located at a non-conserved intronic position, not widely known, to affect splicing with 5/5 in silico programs 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 203/121102 (1/596 including 1 homozygote), predominantly in the African cohort, 183/10348 (1/56, 1 homozygote), which exceeds the estimated maximum expected allele frequency for a pathogenic FH variant of 1/400000. Therefore, suggesting that the variant of interest is a common polymorphism found in population(s) of African origin. The variant of interest, to our knowledge, has not been reported in affected individuals via publications. A reputable clinical laboratory cites the variant as "benign." Therefore, the variant of interest is classified as Benign.

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