ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.1084del (p.Ter362AsnextTer?)

dbSNP: rs1592221672
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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 RCV000794802 SCV000934232 pathogenic not provided 2024-12-05 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the HMBS mRNA. It is expected to extend the length of the HMBS protein by 89 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This protein extension has been observed in individual(s) with acute intermittent porphyria (internal data). ClinVar contains an entry for this variant (Variation ID: 641539). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000794802 SCV001985743 uncertain significance not provided 2019-08-13 criteria provided, single submitter clinical testing Reported previously in individuals with clinical and/or biochemical evidence of acute intermittent porphyria, but familial segregation and full clinical information was not provided all individuals (Leung-Pineda et al., 2017; Chen et al., 2019); Normal stop codon changed to an Asparagine codon, leading to the addition of 89 amino acids at the C-terminus; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28848030, 30740734)

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