Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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  • See Evidence submitted by expert panel for details.

Variant: NM_000277.2(PAH):c.1271T>C (p.Leu424Ser)

CA229424

102584 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 047bef50-812a-451d-a05a-87d93f28dbe8

HGVS expressions

NM_000277.2:c.1271T>C
NM_000277.2(PAH):c.1271T>C (p.Leu424Ser)
NC_000012.12:g.102840444A>G
CM000674.2:g.102840444A>G
NC_000012.11:g.103234222A>G
CM000674.1:g.103234222A>G
NC_000012.10:g.101758352A>G
NG_008690.1:g.82159T>C
NG_008690.2:g.122967T>C
NM_000277.1:c.1271T>C
NM_001354304.1:c.1271T>C
NM_000277.3:c.1271T>C
ENST00000307000.7:c.1256T>C
ENST00000551114.2:n.933T>C
ENST00000553106.5:c.1271T>C
ENST00000635477.1:n.375T>C
ENST00000635528.1:n.786T>C

Uncertain Significance

Met criteria codes 2
PM2 PP3
Not Met criteria codes 6
PM5 BA1 BS1 BS2 PS1 PS3

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Phenylketonuria VCEP
The NM_000277.2:c.1271T>C (p.Leu424Ser) variant in PAH has not been reported in the medical literature. This variant is absent from 1000G, ESP, ExAC, and gnomAD. A deleterious effect is predicted in SIFT, Polyphen-2, and REVEL=0.966. Overall, there is not enough evidence to classify the p.Leu424Ser variant with certainty. PAH-specific ACMG/AMP criteria applied: PM2, PP3.
Met criteria codes
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Not Met criteria codes
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2
1 entry in HGMD: personal communication; however link not functional.
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Approved on: 2019-03-31
Published on: 2019-04-06
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