ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.607C>T (p.Arg203Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004574034 SCV004191804 likely pathogenic Mitochondrial trifunctional protein deficiency 1 2024-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003468323 SCV004292066 pathogenic Mitochondrial trifunctional protein deficiency 2024-01-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg203*) 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). This variant is present in population databases (rs534616210, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with mitochondrial trifunctional protein deficiency (PMID: 12754706). This variant is also known as c.607C>T (p.R170X). For these reasons, this variant has been classified as Pathogenic.

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