ClinVar Miner

Submissions for variant NM_000140.5(FECH):c.901_902del (p.Trp301fs)

dbSNP: rs1430926156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381521 SCV001579957 pathogenic not provided 2022-07-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp301Alafs*23) 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). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with erythropoietic protoporphyria (PMID: 8005600, 23364466).
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003234795 SCV003932801 pathogenic Protoporphyria, erythropoietic, 1 2023-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003399198 SCV004120152 pathogenic FECH-related disorder 2023-09-20 criteria provided, single submitter clinical testing The FECH c.901_902delTG variant is predicted to result in a frameshift and premature protein termination (p.Trp301Alafs*23). This variant has previously been reported to be causative for erythropoietic protoporphyria (Ventura P et al 2020. PubMed ID: 33021473; Balwani M et al 2013. PubMed ID: 23364466). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in FECH are expected to be pathogenic. This variant is interpreted as pathogenic.

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