ClinVar Miner

Submissions for variant NM_213653.4(HJV):c.445del (p.Asp149fs)

dbSNP: rs1553769690
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
BloodGenetics RCV001794943 SCV002033801 likely pathogenic Hemochromatosis type 2A 2021-07-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002034649 SCV002188469 pathogenic not provided 2024-02-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp149Thrfs*97) in the HJV gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 278 amino acid(s) of the HJV protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with hereditary hemochromatosis (PMID: 14982873). ClinVar contains an entry for this variant (Variation ID: 1327997). This variant disrupts a region of the HJV protein in which other variant(s) (p.Arg385*) have been determined to be pathogenic (PMID: 14982873, 30389309). 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.
Fulgent Genetics, Fulgent Genetics RCV001794943 SCV005672398 pathogenic Hemochromatosis type 2A 2024-05-29 criteria provided, single submitter clinical testing

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