ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.693del (p.Ala232fs)

dbSNP: rs2147825515
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Vockley Lab, University of Pittsburgh RCV002264901 SCV002546245 pathogenic Mitochondrial trifunctional protein deficiency 2022-04-20 criteria provided, single submitter research The point deletion with frameshift variant c.693delC in exon 9 (p.A232Lfs*20) has been initially described by Spiekerkoetter et al. (2003) in the same patient as the present submission. It was found in a compound heterozygous state with the missense variant c.881C>G (p.P294R) in exon 10. They described the patient as a male Caucasian patient presenting the hepatic form of the disease, who was 5-month old at the onset and 1-year-5-month old when the paper was published – in the latter occasion he was asymptomatic. In the patient description, the authors refer hypoglycemia, but not cardiomyopathy, skeletal myopathy, neuropathy or maternal HELLP syndrome.

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