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NM_000277.3(PAH):c.926C>T (p.Ala309Val) AND PAH-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 29, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004739343.1

Allele description [Variation Report for NM_000277.3(PAH):c.926C>T (p.Ala309Val)]

NM_000277.3(PAH):c.926C>T (p.Ala309Val)

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.926C>T (p.Ala309Val)
Other names:
NM_000277.1(PAH):c.926C>T
HGVS:
  • NC_000012.12:g.102846938G>A
  • NG_008690.2:g.116473C>T
  • NM_000277.3:c.926C>TMANE SELECT
  • NM_001354304.2:c.926C>T
  • NP_000268.1:p.Ala309Val
  • NP_000268.1:p.Ala309Val
  • NP_001341233.1:p.Ala309Val
  • NC_000012.11:g.103240716G>A
  • NM_000277.1:c.926C>T
  • NM_001354304.1:c.926C>T
  • P00439:p.Ala309Val
Protein change:
A309V
Links:
UniProtKB: P00439#VAR_000994; dbSNP: rs62642935
NCBI 1000 Genomes Browser:
rs62642935
Molecular consequence:
  • NM_000277.3:c.926C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.926C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PAH-related disorder
Synonyms:
PAH-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005360388PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Sep 29, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005360388.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The PAH c.926C>T variant is predicted to result in the amino acid substitution p.Ala309Val. This variant has been reported as causative for phenylalanine hydroxylase deficiency (Guldberg et al. 1993. PubMed ID: 8268925; Romano et al. 1996. PubMed ID: 8830172; Zschocke et al. 1995. PubMed ID: 8533759; Jeannesson-Thivisol et al. 2015. PubMed ID: 26666653). This variant has been reported to reduce PAH enzyme activity to less than 50% of that of the wild-type protein (Ho et al. 2008. PubMed ID: 18590700; Zurflüh et al. 2008. PubMed ID: 17935162). Several other laboratories as well as the ClinGen PAH Variant Curation Expert Panel classify this variant as pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/92753/). This variant is interpreted as pathogenic.

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

Last Updated: Nov 18, 2024