ClinVar Miner

Submissions for variant NM_000410.4(HFE):c.480del (p.Arg161fs)

dbSNP: rs777018511
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385485 SCV001585356 pathogenic Hereditary hemochromatosis 2023-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg161Glyfs*50) 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 (rs777018511, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with hemochromatosis (PMID: 12542741). This variant is also known as HFE*13 and P160ΔC. ClinVar contains an entry for this variant (Variation ID: 1072713). For these reasons, this variant has been classified as Pathogenic.

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