NM_000310.4(PPT1):c.541G>T (p.Val181Leu) AND Global developmental delay

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 12, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002222156.1

Allele description

NM_000310.4(PPT1):c.541G>T (p.Val181Leu)

Gene:

PPT1:palmitoyl-protein thioesterase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

Preferred name:

NM_000310.4(PPT1):c.541G>T (p.Val181Leu)

HGVS:

NC_000001.11:g.40080483C>A
NG_009192.1:g.21988G>T
NM_000310.4:c.541G>TMANE SELECT
NM_001142604.2:c.232G>T
NM_001363695.2:c.541G>T
NP_000301.1:p.Val181Leu
NP_000301.1:p.Val181Leu
NP_001136076.1:p.Val78Leu
NP_001350624.1:p.Val181Leu
LRG_690t1:c.541G>T
LRG_690:g.21988G>T
LRG_690p1:p.Val181Leu
NC_000001.10:g.40546155C>A
NM_000310.3:c.541G>T
P50897:p.Val181Leu

Protein change:

V181L

Links:

UniProtKB: P50897#VAR_005556; dbSNP: rs148412181

NCBI 1000 Genomes Browser:

rs148412181

Molecular consequence:

NM_000310.4:c.541G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001142604.2:c.232G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001363695.2:c.541G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Global developmental delay (DD)
Identifiers:: MedGen: C0557874; Human Phenotype Ontology: HP:0001263

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002499694	Institute of Human Genetics, University Hospital Muenster	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 12, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002499694

Institute of Human Genetics, University Hospital Muenster

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 12, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Human Genetics, University Hospital Muenster, SCV002499694.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

ACMG categories: PS3,PS4,PM2,PP3,PP5

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	blood	not provided		1	not provided	not provided	not provided

Last Updated: Jun 17, 2024

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