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NM_000277.3(PAH):c.1112A>G (p.Lys371Arg) AND Phenylketonuria

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 23, 2021
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001543653.1

Allele description [Variation Report for NM_000277.3(PAH):c.1112A>G (p.Lys371Arg)]

NM_000277.3(PAH):c.1112A>G (p.Lys371Arg)

Gene:
PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_000277.3(PAH):c.1112A>G (p.Lys371Arg)
HGVS:
  • NC_000012.12:g.102843733T>C
  • NG_008690.2:g.119678A>G
  • NM_000277.3:c.1112A>GMANE SELECT
  • NM_001354304.2:c.1112A>G
  • NP_000268.1:p.Lys371Arg
  • NP_001341233.1:p.Lys371Arg
  • NC_000012.11:g.103237511T>C
  • NM_000277.1:c.1112A>G
  • NM_000277.3(PAH):c.1112A>GMANE SELECT
  • p.Lys371Arg
Protein change:
K371R
Links:
dbSNP: rs62507268
NCBI 1000 Genomes Browser:
rs62507268
Molecular consequence:
  • NM_000277.3:c.1112A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.1112A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Phenylketonuria (PKU)
Synonyms:
Phenylketonurias; Oligophrenia phenylpyruvica; Folling disease
Identifiers:
MONDO: MONDO:0009861; MedGen: C0031485; Orphanet: 716; OMIM: 261600

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001762330ClinGen PAH Variant Curation Expert Panel
reviewed by expert panel

(ClinGen PAH ACMG Specifications v1)		Uncertain significance
(Apr 23, 2021) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen PAH Variant Curation Expert Panel, SCV001762330.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.1112A>G (p.Lys371Arg) variant in PAH has been reported in a patient with PKU (BH4 deficiency excluded) (PMID: 23430918, 9169088) detected with pathogenic variant IVS10-11G>A, parental analysis not reported PMID: 9169088. This variant is absent in population databases. Computational evidence is conflicting. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_moderate, PM2, PP3_supporting.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022