ClinVar Miner

Submissions for variant NM_002133.3(HMOX1):c.287G>A (p.Trp96Ter)

gnomAD frequency: 0.00006  dbSNP: rs137932222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753341 SCV002007382 uncertain significance not provided 2019-10-30 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001780441 SCV002016606 likely pathogenic Heme oxygenase 1 deficiency 2019-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001753341 SCV002234074 pathogenic not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp96*) in the HMOX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HMOX1 are known to be pathogenic (PMID: 9884342, 21088618). This variant is present in population databases (rs137932222, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with HMOX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1318566). For these reasons, this variant has been classified as Pathogenic.

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