Submissions for variant NM_000277.3(PAH):c.1092_1094del (p.Leu365del)

dbSNP: rs62516096

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen PAH Variant Curation Expert Panel	RCV000000628	SCV001146701	likely pathogenic	Phenylketonuria	2019-05-04	reviewed by expert panel	curation	The c.1092_1094delTCT variant in PAH has been previously reported as a single variant, found in trans with the Pathogenic variant (per internal PAH ClinGen Working Group classification, see ClinVar allele ID 15635) p.Gly272Ter in one proband with classic PKU (PMID: 1975559); phase was confirmed via parental testing (PM3). Apart from stating that the proband was identified via newborn screening further detail is provided regarding the proband's phenotype, including whether BH4 deficiency was formally excluded (PP4?). The variant is a protein-length changing variant in a non-repeat region (PM4). It is absent from control databases including ethnically matched individuals, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2).
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences	RCV000000628	SCV004035238	likely pathogenic	Phenylketonuria	2023-09-19	criteria provided, single submitter	clinical testing
OMIM	RCV000000628	SCV000020778	pathogenic	Phenylketonuria	1990-08-01	no assertion criteria provided	literature only
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE	RCV000088752	SCV000119336	not provided	not provided		no assertion provided	not provided