ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.959C>A (p.Ala320Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital RCV002466762 SCV002760221 pathogenic Propionic acidemia 2022-12-12 no assertion criteria provided clinical testing The homozygous p.(Ala320Asp) variant in PCCA has been identified in our patient with a severe form of Propionic acidemia evident by biochemical markers. Had recurrent attacks of resistant hyperammonemia, tubulopathy and chronic anemia. Died at the age of 7 months with severe decompensation precipitated by a chest infection.

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