NM_002230.4(JUP):c.1715G>T (p.Arg572Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 25, 2012
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:: RCV000039069.5

Allele description [Variation Report for NM_002230.4(JUP):c.1715G>T (p.Arg572Leu)]

NM_002230.4(JUP):c.1715G>T (p.Arg572Leu)

Gene:

JUP:junction plakoglobin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_002230.4(JUP):c.1715G>T (p.Arg572Leu)

HGVS:

NC_000017.11:g.41758457C>A
NG_009090.2:g.33256G>T
NM_001352773.2:c.1715G>T
NM_001352774.2:c.1715G>T
NM_001352775.2:c.1715G>T
NM_001352776.2:c.1715G>T
NM_001352777.2:c.1715G>T
NM_002230.4:c.1715G>TMANE SELECT
NM_021991.4:c.1715G>T
NP_001339702.1:p.Arg572Leu
NP_001339703.1:p.Arg572Leu
NP_001339704.1:p.Arg572Leu
NP_001339705.1:p.Arg572Leu
NP_001339706.1:p.Arg572Leu
NP_002221.1:p.Arg572Leu
NP_068831.1:p.Arg572Leu
LRG_401t1:c.1715G>T
LRG_401:g.33256G>T
NC_000017.10:g.39914709C>A
NM_021991.2:c.1715G>T
c.1715G>T

Protein change:

R572L

Links:

dbSNP: rs397517298

NCBI 1000 Genomes Browser:

rs397517298

Molecular consequence:

NM_001352773.2:c.1715G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352774.2:c.1715G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352775.2:c.1715G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352776.2:c.1715G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352777.2:c.1715G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002230.4:c.1715G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_021991.4:c.1715G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000062747	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Jul 25, 2012)	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

SCV000062747

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Jul 25, 2012)

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	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000062747.5

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

Description

The Arg572Leu variant in JUP has not been reported in the literature nor previou sly identified by our laboratory. It has also not been detected in 2 very large and broad populations (European and African American) screened by the NHLBI Exom e Sequencing Project (http://evs.gs.washington.edu/EVS/). This low frequency is consistent with a disease causing role but is insufficient to establish this wit h confidence. The affected amino acid is highly conserved in evolution, suggesti ng that a change would impact the protein. This is consistent with other comput ational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and S IFT) that predict an impact to the protein (their accuracy is unknown). Addition al information is needed to fully assess the clinical significance of the Arg572 Leu variant.

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

Last Updated: May 16, 2025

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