ClinVar Miner

Submissions for variant NM_000140.5(FECH):c.286C>T (p.Arg96Ter)

dbSNP: rs984041251
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783269 SCV002023054 pathogenic Protoporphyria, erythropoietic, 1 2019-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541144 SCV003443793 pathogenic not provided 2024-05-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg96*) 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 present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with autosomal recessive erythropoietic protoporphyria (PMID: 8601739). ClinVar contains an entry for this variant (Variation ID: 1322894). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002541144 SCV005325031 likely pathogenic not provided 2023-08-18 criteria provided, single submitter clinical testing Observed in an individual with erythropoietic protoporphyria (Henriksson M et al., 1996); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 33021473, 8601739)
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001783269 SCV005442283 pathogenic Protoporphyria, erythropoietic, 1 2024-12-19 criteria provided, single submitter clinical testing

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