Submissions for variant NM_000277.3(PAH):c.411C>T (p.Ser137=)

dbSNP: rs1801146

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen PAH Variant Curation Expert Panel	RCV001114784	SCV001762337	uncertain significance	Phenylketonuria	2020-03-26	reviewed by expert panel	curation	The c.411C>T (p.Ser137Ser) variant is absent from population databases (PM2). Human splice finder does not predict impact on a consensus splice site or creation of a new one, and there was no result in MaxEntScan (BP7). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2.
Illumina Laboratory Services, Illumina	RCV001114784	SCV001272690	uncertain significance	Phenylketonuria	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE	RCV000088913	SCV000119511	not provided	not provided		no assertion provided	not provided