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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_000277.1:c.772C>T

CA6748843

590340 (ClinVar)

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

HGVS expressions

NM_000277.1:c.772C>T
NM_000277.2:c.772C>T
NM_001354304.1:c.772C>T
NM_000277.3:c.772C>T
ENST00000307000.7:c.757C>T
ENST00000549247.6:n.531C>T
ENST00000553106.5:c.772C>T
NC_000012.12:g.102852885G>A
CM000674.2:g.102852885G>A
NC_000012.11:g.103246663G>A
CM000674.1:g.103246663G>A
NC_000012.10:g.101770793G>A
NG_008690.1:g.69718C>T
NG_008690.2:g.110526C>T

Likely Benign

Met criteria codes 2
BP7 BS1
Unmet criteria codes 1
PM2

Expert Panel

Evidence Links 0

Evidence submitted by expert panel
PAH VCEP
PAH-specific ACMG/AMP criteria applied: BS1: > PAH specific guidelines of AF-0.0002 (0.02%); BP7: No deleterious effect predicted.. In summary this variant meets criteria to be classified as likely benign for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (BS1, BP7).
Met criteria codes
BP7
No deleterious effect predicted.
BS1
> PAH specific guidelines of AF-0.0002 (0.02%)
Unmet criteria codes
PM2
> PAH specific guidelines of AF-0.0002 (0.02%)
Approved on: 2018-08-13
Published on: 2019-04-06
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