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NM_000277.3(PAH):c.934G>C (p.Gly312Arg) AND Phenylketonuria

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 9, 2018
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:
RCV000758102.2

Allele description [Variation Report for NM_000277.3(PAH):c.934G>C (p.Gly312Arg)]

NM_000277.3(PAH):c.934G>C (p.Gly312Arg)

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.934G>C (p.Gly312Arg)
HGVS:
  • NC_000012.12:g.102846930C>G
  • NG_008690.2:g.116481G>C
  • NM_000277.3:c.934G>CMANE SELECT
  • NM_001354304.2:c.934G>C
  • NP_000268.1:p.Gly312Arg
  • NP_001341233.1:p.Gly312Arg
  • NC_000012.11:g.103240708C>G
  • NM_000277.1:c.934G>C
Protein change:
G312R
Links:
dbSNP: rs763115697
NCBI 1000 Genomes Browser:
rs763115697
Molecular consequence:
  • NM_000277.3:c.934G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.934G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Phenylketonuria (PKU)
Synonyms:
FOLLING DISEASE; OLIGOPHRENIA PHENYLPYRUVICA; Phenylketonurias
Identifiers:
MONDO: MONDO:0009861; MedGen: C0031485; Orphanet: 716; OMIM: 261600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000886575ClinGen PAH Variant Curation Expert Panel
reviewed by expert panel

(ClinGen PAH ACMG Specifications v1)		Uncertain significance
(Dec 9, 2018) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India.

Bashyam MD, Chaudhary AK, Kiran M, Nagarajaram HA, Devi RR, Ranganath P, Dalal A, Bashyam L, Gupta N, Kabra M, Muranjan M, Puri RD, Verma IC, Nampoothiri S, Kadandale JS.

J Cell Biochem. 2014 Mar;115(3):566-74. doi: 10.1002/jcb.24692.

PubMed [citation]
PMID:
24130151

Details of each submission

From ClinGen PAH Variant Curation Expert Panel, SCV000886575.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

The c.934G>C (p.Gly312Arg) variant in PAH is absent from population databases, and predicted damaging by in silico algorithms. It is identified in a single patient with phenylketonuria, in trans with a VUS (IVS8-7A>G) Defect in BH4 metabolism was not excluded in this publication (Bashyam, 2014. PMID: 24130151). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PP3.

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

Last Updated: Jan 13, 2025