Submissions for variant NM_003477.3(PDHX):c.1333T>G (p.Phe445Val)

gnomAD frequency: 0.00021  dbSNP: rs147948716

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000390708	SCV000371632	likely benign	Pyruvate dehydrogenase E3-binding protein deficiency	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000676201	SCV001121781	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000676201	SCV004129998	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	PDHX: BP4, BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000676201	SCV000801954	uncertain significance	not provided	2016-02-25	no assertion criteria provided	clinical testing