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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.511G>A (p.Gly171Arg)

CA229598

102716 (ClinVar)

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

HGVS expressions

NM_000277.2:c.511G>A
NM_000277.1:c.511G>A
NM_001354304.1:c.511G>A
NM_000277.3:c.511G>A
ENST00000307000.7:c.496G>A
ENST00000549111.5:n.607G>A
ENST00000551988.5:n.532G>A
ENST00000553106.5:c.511G>A
NC_000012.12:g.102855331C>T
CM000674.2:g.102855331C>T
NC_000012.11:g.103249109C>T
CM000674.1:g.103249109C>T
NC_000012.10:g.101773239C>T
NG_008690.1:g.67272G>A
NG_008690.2:g.108080G>A
NM_000277.2(PAH):c.511G>A (p.Gly171Arg)

Likely Pathogenic

Met criteria codes 4
PM2 PP4_Moderate PP3 PM3_Strong

Expert Panel

Evidence Links 2

Evidence submitted by expert panel
PAH VCEP
PAH-specific ACMG/AMP criteria applied: PM2: Absent from ExAC, gnomAD, 1000G, ESP; PP3: Deleterious effect predicted in SIFT, Polyphen-2, MutationTaster. REVEL=0.966; PP4_Moderate: Detected in PKU patients. BH4 deficiency assessed. Upgraded per ClinGen PAH EP. (PMID:26600521; PMID:23430918); PM3_Strong: Detected with c.611A>G (P/LP) and R408W (P). Upgraded per ClinGen SVI workgroup. (PMID:23430918; PMID:26600521). In summary this variant meets criteria to be classified as likely pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM2, PP3, PP4_Moderate, PM3_Strong).
Met criteria codes
PM2
Absent from ExAC, gnomAD, 1000G, ESP
PP4_Moderate
Detected in PKU patients. BH4 deficiency assessed. Upgraded per ClinGen PAH EP.

PP3
Deleterious effect predicted in SIFT, Polyphen-2, MutationTaster. REVEL=0.966
PM3_Strong
Detected with c.611A>G (P/LP) and R408W (P). Upgraded per ClinGen SVI workgroup.

Approved on: 2018-08-10
Published on: 2019-05-04
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