ClinVar Miner

Submissions for variant NM_003477.3(PDHX):c.44G>A (p.Arg15His) (rs387906998)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198591 SCV000252060 uncertain significance not provided 2018-11-26 criteria provided, single submitter clinical testing p.Arg15His (CGT>CAT): c.44 G>A in exon 1 of the PDHX gene (NM_003477.2). A variant of unknown significance has been identified in the PDHX gene. The R15H missense change has been reported previously in a deep sequencing study of consanguineous families with autosomal recessive intellectual disability (Najmabadi et al., 2011). Whether or not follow-up biochemical studies were performed in the family in which R15H was identified was not reported (Najmabadi et al., 2011). The amino acid change is conservative in that both Arginine and Histidine are positively charged amino acids. This change occurs at a position in the PDHX protein that is not highly conserved. In-silico analyses are not consistent in their predictions of whether or not R15H is damaging to the PDHX protein. Therefore, based on the currently available information, it is unclear whether R15H is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Fulgent Genetics,Fulgent Genetics RCV000023731 SCV000894620 uncertain significance Pyruvate dehydrogenase E3-binding protein deficiency 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000023731 SCV000045022 pathogenic Pyruvate dehydrogenase E3-binding protein deficiency 2011-09-21 no assertion criteria provided literature only

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