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Please note this is a beta version of the ClinGen Evidence Repository. This resource is intended to provide access to variant level evidence used and applied by ClinGen Variant Curation Expert Panels in the classification of variants. In this beta version, the evidence is limited to curation notes and referenced literature (PMIDs).

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NM_000277.2(PAH):c.331C>T (p.Arg111Ter)

CA251526

581 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance

HGVS expressions

NM_000277.2:c.331C>T
NM_000277.1:c.331C>T (p.Arg111Ter)
XM_011538422.1:c.331C>T (p.Arg111Ter)
NM_001354304.1:c.331C>T (p.Arg111Ter)
XM_017019370.2:c.331C>T (p.Arg111Ter)
ENST00000307000.7:c.316C>T (p.Arg106Ter)
ENST00000546844.1:c.331C>T (p.Arg111Ter)
ENST00000548928.1:n.253C>T
ENST00000549111.5:n.427C>T
ENST00000550978.6:n.315C>T
ENST00000551337.5:c.331C>T (p.Arg111Ter)
ENST00000551988.5:n.420C>T
ENST00000553106.5:c.331C>T (p.Arg111Ter)
NC_000012.12:g.102894756G>A
CM000674.2:g.102894756G>A
NC_000012.11:g.103288534G>A
CM000674.1:g.103288534G>A
NC_000012.10:g.101812664G>A
NG_008690.1:g.27847C>T
NG_008690.2:g.68655C>T

Pathogenic

Met criteria codes 3
PM3 PP4_Moderate PVS1
Unmet criteria codes 1
PM2

Expert Panel

Evidence Links 4

Evidence submitted by expert panel
PAH EP
PAH-specific ACMG/AMP criteria applied: PVS1: Nonsense variant; PP4_Moderate: Seen in multiple Chinese PKU patients. BH4 deficiency excluded. (PMID:1301187; PMID:2816939; PMID:9860305); PM3: Detected with R243Q, pathogenic in ClinVar (PMID:15503242). In summary this variant meets criteria to be classified as pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PVS1, PP4_Moderate, PM3).
Met criteria codes
PM3
Detected with R243Q, pathogenic in ClinVar

PP4_Moderate
Seen in multiple Chinese PKU patients. BH4 deficiency excluded.

PVS1
Nonsense variant
Unmet criteria codes
PM2
Absent from 1000G, ESP. ExAC MAF=0.00029.
Approved on: 2018-08-10
Published on: 2018-10-02
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