ClinVar Miner

Submissions for variant NM_000140.5(FECH):c.580_584del (p.Tyr194fs)

dbSNP: rs786205248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003555881 SCV004297579 pathogenic not provided 2023-03-09 criteria provided, single submitter clinical testing This variant is present in population databases (rs786205248, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with FECH-related condition (PMID: 7705834). ClinVar contains an entry for this variant (Variation ID: 560). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr194Leufs*16) 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).
OMIM RCV000000590 SCV000020739 pathogenic Protoporphyria, erythropoietic, 1 1998-07-01 no assertion criteria provided literature only

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