NM_000277.3(PAH):c.805A>C (p.Ile269Leu) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 5, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000089101.4

Allele description [Variation Report for NM_000277.3(PAH):c.805A>C (p.Ile269Leu)]

NM_000277.3(PAH):c.805A>C (p.Ile269Leu)

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.805A>C (p.Ile269Leu)
Other names:
NM_000277.1(PAH):c.805A>C
HGVS:
  • NC_000012.12:g.102852852T>G
  • NG_008690.2:g.110559A>C
  • NM_000277.3:c.805A>CMANE SELECT
  • NM_001354304.2:c.805A>C
  • NP_000268.1:p.Ile269Leu
  • NP_001341233.1:p.Ile269Leu
  • NC_000012.11:g.103246630T>G
  • NM_000277.1:c.805A>C
  • P00439:p.Ile269Leu
Protein change:
I269L
Links:
UniProtKB: P00439#VAR_000969; dbSNP: rs62508692
NCBI 1000 Genomes Browser:
rs62508692
Molecular consequence:
  • NM_000277.3:c.805A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.805A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119708DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTEno assertion providednot providednot providednot provided

SCV000330984EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Jun 12, 2015)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV001784251GeneDxcriteria provided, single submitter
Pathogenic
(May 5, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Response of phenylketonuria to tetrahydrobiopterin.

Michals-Matalon K, Bhatia G, Guttler F, Tyring SK, Matalon R.

J Nutr. 2007 Jun;137(6 Suppl 1):1564S-1567S; discussion 1573S-1575S. doi: 10.1093/jn/137.6.1564S.

PubMed [citation]
PMID:
17513426

Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.

Bosco P, Cali F, Meli C, Mollica F, Zammarchi E, Cerone R, Vanni C, Palillo L, Greco D, Romano V.

Hum Mutat. 1998;11(3):240-3.

PubMed [citation]
PMID:
9521426

Details of each submission

From DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE, SCV000119708.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000330984.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From GeneDx, SCV001784251.1

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

Description

Classified as responsive to tetrahydrobiopterin (BH4) therapy (Zurfluh et al., 2008); This variant is associated with the following publications: (PMID: 32668217, 9521426, 27121329, 17935162, 14726806, 11708866, 23357515, 23500595, 21871829, 17924342, 17513426, 10767174)

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

Last Updated: Nov 27, 2021

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