ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.685C>T (p.Arg229Ter)

dbSNP: rs759136382
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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 RCV000702740 SCV000831608 pathogenic Mitochondrial trifunctional protein deficiency 2023-03-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 579455). This premature translational stop signal has been observed in individual(s) with a fatty acid oxidation disorder (PMID: 12754706). This variant is present in population databases (rs759136382, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg229*) in the HADHB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HADHB are known to be pathogenic (PMID: 9259266, 12754706).
Revvity Omics, Revvity RCV003492135 SCV003827004 pathogenic Mitochondrial trifunctional protein deficiency 2 2022-01-17 criteria provided, single submitter clinical testing

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