ClinVar Miner

Submissions for variant NM_000410.4(HFE):c.546_547del (p.Leu183fs)

gnomAD frequency: 0.00002  dbSNP: rs765804978
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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 RCV002230337 SCV000546060 pathogenic Hereditary hemochromatosis 2023-04-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu183Glyfs*60) in the HFE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HFE are known to be pathogenic (PMID: 27518069). This variant is present in population databases (rs765804978, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with HFE-related conditions. ClinVar contains an entry for this variant (Variation ID: 407079). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002489030 SCV002785265 likely pathogenic Variegate porphyria; Microvascular complications of diabetes, susceptibility to, 7; Alzheimer disease type 1; Hemochromatosis type 1; TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; Familial porphyria cutanea tarda 2021-10-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126743 SCV003801604 likely pathogenic Hemochromatosis type 1 2023-02-08 criteria provided, single submitter clinical testing

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