ClinVar Miner

Submissions for variant NM_000143.3(FH):c.322C>T (p.Gln108Ter) (rs1060499630)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626620 SCV000747321 likely pathogenic Uterine leiomyoma; Cutaneous leiomyoma 2017-01-01 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000445632 SCV000537227 pathogenic Multiple cutaneous leiomyomas 2017-01-17 criteria provided, single submitter clinical testing
Invitae RCV000697664 SCV000826289 pathogenic Fumarase deficiency 2018-06-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln108*) in the FH gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FH-related disease. ClinVar contains an entry for this variant (Variation ID: 393560). Loss-of-function variants in FH are known to be pathogenic (PMID: 11865300, 21398687). For these reasons, this variant has been classified as Pathogenic.

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