ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.445C>T (p.Arg149Ter)

dbSNP: rs118204120
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000001551 SCV000492655 pathogenic Acute intermittent porphyria 2015-11-25 criteria provided, single submitter clinical testing
Invitae RCV001389642 SCV001591075 pathogenic not provided 2023-09-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg149*) in the HMBS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HMBS are known to be pathogenic (PMID: 7757070, 7962538). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with acute intermittent porphyria (PMID: 7757070, 25118551, 27507172). ClinVar contains an entry for this variant (Variation ID: 1486). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003924793 SCV004737463 pathogenic HMBS-related condition 2023-11-21 criteria provided, single submitter clinical testing The HMBS c.445C>T variant is predicted to result in premature protein termination (p.Arg149*). This variant was reported in individuals with acute intermittent porphyria phenotypes (Table 1, Kauppinen et al. 1995. PubMed ID: 7757070; Ribeiro et al. 2002. PubMed ID: 12357456). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in HMBS are expected to be pathogenic. This variant is interpreted as pathogenic.
OMIM RCV000001551 SCV000021706 pathogenic Acute intermittent porphyria 2006-01-01 no assertion criteria provided literature only

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