Submissions for variant NM_000277.3(PAH):c.-71A>C

gnomAD frequency: 0.14554  dbSNP: rs2280615

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen PAH Variant Curation Expert Panel	RCV000326257	SCV001370825	benign	Phenylketonuria	2020-03-27	reviewed by expert panel	curation	The c.-71A>C variant in PAH has a MAF of 0.16686 in the gnomAD African population. In summary this variant meets criteria to be classified as benign. PAH-specific ACMG/AMP criteria applied: BA1.
Illumina Laboratory Services, Illumina	RCV000326257	SCV000375572	benign	Phenylketonuria	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Pars Genome Lab	RCV000326257	SCV001750015	benign	Phenylketonuria	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000088694	SCV001867357	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE	RCV000088694	SCV000119274	not provided	not provided		no assertion provided	not provided