Variant: NM_000277.1(PAH):c.983C>T (p.Thr328Ile)

CA10603804

281073 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

UUID: 7adf378c-7393-4f5a-8666-38c92a10a292

Approved on: 2018-08-10

Published on: 2019-04-05

HGVS expressions

NM_000277.1:c.983C>T
NM_000277.1(PAH):c.983C>T (p.Thr328Ile)
NC_000012.12:g.102844418G>A
CM000674.2:g.102844418G>A
NC_000012.11:g.103238196G>A
CM000674.1:g.103238196G>A
NC_000012.10:g.101762326G>A
NG_008690.1:g.78185C>T
NG_008690.2:g.118993C>T
NM_000277.2:c.983C>T
NM_001354304.1:c.983C>T
NM_000277.3:c.983C>T
ENST00000307000.7:c.968C>T
ENST00000549247.6:n.742C>T
ENST00000551114.2:n.645C>T
ENST00000553106.5:c.983C>T
ENST00000635477.1:n.87C>T
ENST00000635528.1:n.498C>T

Uncertain Significance

• Met criteria codes: PP3 PM2

• Not Met criteria codes: PM5

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Evidence submitted by expert panel

Phenylketonuria VCEP

PAH-specific ACMG/AMP criteria applied: PM2: Absent from ExAC, gnomAD, 1000G, ESP; PP3: Predicted deleterious in SIFT, PolyPhen2, Mutation Taster. REVEL=0.952. In summary this variant meets criteria to be classified as uncertain significance for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM2, PP3).

Met criteria codes

• PP3: Predicted deleterious in SIFT, PolyPhen2, Mutation Taster. REVEL=0.952
• PM2: Absent from ExAC, gnomAD, 1000G, ESP

Not Met criteria codes

• PM5: T328A (VarID 102923) has no clinical significance in ClinVar