Submissions for variant NM_000282.4(PCCA):c.24A>G (p.Thr8=)

gnomAD frequency: 0.00013  dbSNP: rs117397004

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250327	SCV000303457	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001697715	SCV000716788	likely benign	not provided	2018-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV000906313	SCV001050942	benign	Propionic acidemia	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000906313	SCV001269714	likely benign	Propionic acidemia	2018-01-12	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.