ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.826-2A>T

dbSNP: rs1946317952
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332263 SCV001524521 pathogenic Acute intermittent porphyria 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV001332263 SCV002016602 likely pathogenic Acute intermittent porphyria 2021-02-25 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001332263 SCV003924280 pathogenic Acute intermittent porphyria 2023-05-08 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV004793436 SCV005414023 pathogenic not provided 2024-07-15 criteria provided, single submitter clinical testing PP4, PM2, PVS1
PreventionGenetics, part of Exact Sciences RCV003983876 SCV004800208 pathogenic HMBS-related disorder 2023-10-29 no assertion criteria provided clinical testing The HMBS c.826-2A>T variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant has been reported in an individual with acute intermittent porphyria (Table 1, Chen et al. 2019. PubMed ID: 30740734). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in HMBS are expected to be pathogenic. This variant is interpreted as pathogenic.

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