ClinVar Miner

Submissions for variant NM_000140.5(FECH):c.843del (p.Ser281fs)

dbSNP: rs2122250926
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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 RCV001906410 SCV002174881 pathogenic not provided 2024-03-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser281Argfs*55) in the FECH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FECH are known to be pathogenic (PMID: 20105171, 23016163, 23364466). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with erythropoietic protoporphyria (PMID: 9740232). ClinVar contains an entry for this variant (Variation ID: 1402376). For these reasons, this variant has been classified as Pathogenic.

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