ClinVar Miner

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

dbSNP: rs1553769690
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Total submissions: 2
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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 2023-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 1327997). This premature translational stop signal has been observed in individual(s) with hereditary hemochromatosis (PMID: 14982873). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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.

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