ClinVar Miner

Submissions for variant NM_000140.3(FECH):c.1078_1137del

gnomAD frequency: 0.00001  dbSNP: rs879255507
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003555879 SCV004297857 pathogenic not provided 2023-07-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 557). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts a region of the FECH protein in which other variant(s) (p.Cys406Tyr) have been determined to be pathogenic (PMID: 10942404; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of erythropoietic protoporphyria (PMID: 8481408, 20412370). This sequence change creates a premature translational stop signal (p.Lys379*) in the FECH gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acid(s) of the FECH protein. This variant is present in population databases (no rsID available, gnomAD 0.007%).
OMIM RCV000000587 SCV000020736 pathogenic Protoporphyria, erythropoietic, 1 1998-07-01 no assertion criteria provided literature only

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