ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.940_941del (p.Gln314fs)

dbSNP: rs1407093112
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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 RCV001229602 SCV001402053 pathogenic not provided 2021-11-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the HMBS protein in which other variant(s) (p.Gln328Valfs*30) have been determined to be pathogenic (PMID: 10944860, 19138865). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 956739). This premature translational stop signal has been observed in individuals with AIP (PMID: 30740734; Invitae). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln314Valfs*8) in the HMBS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acid(s) of the HMBS protein.
Mayo Clinic Laboratories, Mayo Clinic RCV001229602 SCV004226629 likely pathogenic not provided 2023-04-03 criteria provided, single submitter clinical testing PP4, PM2, PVS1_strong

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