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NM_000277.3(PAH):c.689T>G (p.Val230Gly) AND Phenylketonuria

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 20, 2020
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:
RCV001789761.1

Allele description [Variation Report for NM_000277.3(PAH):c.689T>G (p.Val230Gly)]

NM_000277.3(PAH):c.689T>G (p.Val230Gly)

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.689T>G (p.Val230Gly)
Other names:
NM_000277.1(PAH):c.689T>G; p.Val230Gly
HGVS:
  • NC_000012.12:g.102855153A>C
  • NG_008690.2:g.108258T>G
  • NM_000277.3:c.689T>GMANE SELECT
  • NM_001354304.2:c.689T>G
  • NP_000268.1:p.Val230Gly
  • NP_001341233.1:p.Val230Gly
  • NC_000012.11:g.103248931A>C
  • NM_000277.1:c.689T>G
Protein change:
V230G
Links:
dbSNP: rs199475673
NCBI 1000 Genomes Browser:
rs199475673
Molecular consequence:
  • NM_000277.3:c.689T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.689T>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
SCV002032217ClinGen PAH Variant Curation Expert Panel
reviewed by expert panel

(ClinGen PAH ACMG Specifications v1)		Uncertain significance
(Aug 20, 2020) 		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, SCV002032217.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.689T>G (p.Val230Gly) variant in PAH was reported to the McGill PAHdb by Carducci in 1999, but has not been found in the literature. This variant is absent in population databases. Multiple lines of computational evidence support a deleterious effect. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3.

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

Last Updated: Apr 23, 2022