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NM_000277.3(PAH):c.110T>C (p.Leu37Pro) AND Phenylketonuria

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Dec 10, 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:
RCV000210792.5

Allele description [Variation Report for NM_000277.3(PAH):c.110T>C (p.Leu37Pro)]

NM_000277.3(PAH):c.110T>C (p.Leu37Pro)

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.110T>C (p.Leu37Pro)
Other names:
NM_000277.2(PAH):c.110T>C
HGVS:
  • NC_000012.12:g.102912849A>G
  • NG_008690.2:g.50562T>C
  • NM_000277.3:c.110T>CMANE SELECT
  • NM_001354304.2:c.110T>C
  • NP_000268.1:p.Leu37Pro
  • NP_001341233.1:p.Leu37Pro
  • NC_000012.11:g.103306627A>G
  • NM_000277.1:c.110T>C
Protein change:
L37P
Links:
dbSNP: rs869312996
NCBI 1000 Genomes Browser:
rs869312996
Molecular consequence:
  • NM_000277.3:c.110T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.110T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000266850Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital
no assertion criteria provided
Likely pathogenic
(Oct 1, 2013) 		maternalclinical testing

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

Citation Link,

SCV000886606ClinGen PAH Variant Curation Expert Panel
reviewed by expert panel

(ClinGen PAH ACMG Specifications v1)		Likely pathogenic
(Dec 10, 2018) 		germlinecuration

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
Chinesematernalyes11not provided70not providedclinical testing

Citations

PubMed

Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.

Bik-Multanowski M, Kaluzny L, Mozrzymas R, Oltarzewski M, Starostecka E, Lange A, Didycz B, Gizewska M, Ulewicz-Filipowicz J, Chrobot A, Mikoluc B, Szymczakiewicz-Multanowska A, Cichy W, Pietrzyk JJ.

Acta Biochim Pol. 2013;60(4):613-6. Epub 2013 Dec 17.

PubMed [citation]
PMID:
24350308

[Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province].

Zhang JJ, Sun Y, Sun YJ, Huang ML, Zhang J, Liang XW, Jiang T, Xu ZF.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Oct;30(5):513-7. doi: 10.3760/cma.j.issn.1003-9406.2013.05.002. Chinese.

PubMed [citation]
PMID:
24078561

Details of each submission

From Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, SCV000266850.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes70not providednot provided1not provided1not provided

From ClinGen PAH Variant Curation Expert Panel, SCV000886606.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

The c.110T>C (p.Leu37Pro) variant in PAH is reported in 1 patient with mild PKU. Assessment of BH4 deficiencies not reported. It was detected with a known pathogenic variant, p.R408W. (PMID: 24350308) This variant is absent from ExAC, gnomAD, 1000G, and ESP. A deleterious effect is predicted in SIFT, Polyphen-2, and MutationTaster. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP4, PP3.

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

Last Updated: Jun 23, 2024