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.284_285delTCinsCA (p.Ile95Thr)

CA267649

120272 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 96dba265-41ce-4b51-b2b1-0774513e21ac

HGVS expressions

NM_000277.2:c.284_285delTCinsCA

NM_000277.2(PAH):c.284_285delTCinsCA (p.Ile95Thr)

NC_000012.12:g.102894802_102894803delinsTG

CM000674.2:g.102894802_102894803delinsTG

NC_000012.11:g.103288580_103288581delinsTG

CM000674.1:g.103288580_103288581delinsTG

NC_000012.10:g.101812710_101812711delinsTG

NG_008690.1:g.27800_27801delinsCA

NG_008690.2:g.68608_68609delinsCA

NM_000277.1:c.284_285delinsCA

NM_000277.2:c.284_285delinsCA

NM_001354304.1:c.284_285delinsCA

NM_000277.3:c.284_285delinsCA

NM_001354304.2:c.284_285delinsCA

ENST00000307000.7:c.269_270delinsCA

ENST00000546844.1:c.284_285delinsCA

ENST00000548677.2:n.371_372delinsCA

ENST00000548928.1:n.206_207delinsCA

ENST00000549111.5:n.380_381delinsCA

ENST00000550978.6:n.268_269delinsCA

ENST00000551337.5:c.284_285delinsCA

ENST00000551988.5:n.373_374delinsCA

ENST00000553106.5:c.284_285delinsCA

Uncertain Significance

PM2

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.284_285delTCinsCA (p.Ile95Thr) indel variant in PAH has not been reported in the literature to our knowledge. It has been included in BioPKU/PAHdb (PAH0793) by online submission (Namour et al.,2013). It is absent from ExAC, gnomAD, 1000G, and ESP. There is not consensus among predictions of pathogenicity. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2.

PM2

Absent from controls in ExAC, gnomAD, 1000G, ESP.

Approved on: 2020-01-25

Published on: 2020-01-25

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