NM_000310.4(PPT1):c.541G>C (p.Val181Leu) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 3, 2021
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:: RCV001547349.2

Allele description [Variation Report for NM_000310.4(PPT1):c.541G>C (p.Val181Leu)]

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

HGVS:

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

Protein change:

V181L

Links:

dbSNP: rs148412181

NCBI 1000 Genomes Browser:

rs148412181

Molecular consequence:

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

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001767031	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (May 3, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001767031

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(May 3, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001767031.1

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Sep 29, 2024

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