Submissions for variant NM_003477.3(PDHX):c.742C>T (p.Gln248Ter)

gnomAD frequency: 0.00001  dbSNP: rs113309941

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	RCV000002199	SCV004046877	pathogenic	Pyruvate dehydrogenase E3-binding protein deficiency	2023-10-23	criteria provided, single submitter	clinical testing	This homozygous termination (stop-gain) [PVS1] variant is identified in a 7 year male with neonatal seizures, polydactyly and later developed severe ID with microcephaly. Metabolic acidosis and increased lactate. MRI brain: periventricular leukomalacia. This nucleotide change is absent in gnomAD database [PM2]. Insilico prediction [MutationTaster] predicts a deleterious nature of this variant. A clinvar entry for this variant is available [Variation ID: 2881] with an interpretation of “Pathogenic” [PP5]. Based on the clinical correlation and available evidence, this variant is classified as "Pathogenic"
Institute of Human Genetics, University of Leipzig Medical Center	RCV000002199	SCV004244362	pathogenic	Pyruvate dehydrogenase E3-binding protein deficiency	2024-01-23	criteria provided, single submitter	clinical testing	Criteria applied: PVS1,PM3,PM2_SUP
OMIM	RCV000002199	SCV000022357	pathogenic	Pyruvate dehydrogenase E3-binding protein deficiency	2007-02-01	no assertion criteria provided	literature only