Evidence Repository - Clinical Genome Resources

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

Link to SEPIO compliant JSON-LD document

Variant: NM_000277.2(PAH):c.310_318delGCCACTGTC (p.Ala104_Val106del)

CA220580

92740 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 6d2dd44e-13de-406f-a230-bfe8aa3f0740

HGVS expressions

NM_000277.2:c.310_318delGCCACTGTC

NM_000277.2(PAH):c.310_318delGCCACTGTC (p.Ala104_Val106del)

NC_000012.12:g.102894769_102894777del

CM000674.2:g.102894769_102894777del

NC_000012.11:g.103288547_103288555del

CM000674.1:g.103288547_103288555del

NC_000012.10:g.101812677_101812685del

NG_008690.1:g.27826_27834del

NG_008690.2:g.68634_68642del

NM_000277.1:c.310_318del

NM_000277.2:c.310_318del

NM_001354304.1:c.310_318del

NM_000277.3:c.310_318del

ENST00000307000.7:c.295_303del

ENST00000546844.1:c.310_318del

ENST00000548928.1:n.232_240del

ENST00000549111.5:n.406_414del

ENST00000550978.6:n.294_302del

ENST00000551337.5:c.310_318del

ENST00000551988.5:n.399_407del

ENST00000553106.5:c.310_318del

Uncertain Significance

PP4 PM2 PM4

Evidence Links 1

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

PAH-specific ACMG/AMP criteria applied: PM2: Identified a single time in gnomAD (4.06e-06) and absent in ExAC; PM4: p.Ala104_Val106del; PP4: Single patient picked up on NBS with no confirmation studies, no clinical info, no Phe levels, etc. (PMID:27308838). In summary this variant meets criteria to be classified as uncertain significance for phenylketonuria based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM2, PM4, PP4).

PP4

Single patient picked up on NBS with no confirmation studies, no clinical info, no Phe levels, etc.

PKU as one of several IEMs studied in this paper. No clinical info provided. PubMed:27308838

PM2

Identified a single time in gnomAD (4.06e-06) and absent in ExAC

PM4

p.Ala104_Val106del

Approved on: 2018-08-10

Published on: 2019-08-17

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