ClinVar Miner

Submissions for variant NM_000143.4(FH):c.1082del (p.Asn361fs)

dbSNP: rs1553341012
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635303 SCV000756700 pathogenic Fumarase deficiency 2017-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn361Metfs*12) 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. 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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