ClinVar Miner

Submissions for variant NM_000143.4(FH):c.414C>T (p.Leu138=)

gnomAD frequency: 0.00001  dbSNP: rs540968725
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002540777 SCV001053291 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021952 SCV001183632 likely benign Hereditary cancer-predisposing syndrome 2019-03-21 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.
GeneDx RCV002540777 SCV004030960 uncertain significance not provided 2023-02-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Natera, Inc. RCV000908521 SCV002085867 likely benign Fumarase deficiency 2020-07-30 no assertion criteria provided clinical testing

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