NM_002230.4(JUP):c.578T>C (p.Met193Thr) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 7, 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:: RCV002354587.2

Allele description [Variation Report for NM_002230.4(JUP):c.578T>C (p.Met193Thr)]

NM_002230.4(JUP):c.578T>C (p.Met193Thr)

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.578T>C (p.Met193Thr)

HGVS:

NC_000017.11:g.41769098A>G
NG_009090.2:g.22615T>C
NM_001352773.2:c.578T>C
NM_001352774.2:c.578T>C
NM_001352775.2:c.578T>C
NM_001352776.2:c.578T>C
NM_001352777.2:c.578T>C
NM_002230.4:c.578T>CMANE SELECT
NM_021991.4:c.578T>C
NP_001339702.1:p.Met193Thr
NP_001339703.1:p.Met193Thr
NP_001339704.1:p.Met193Thr
NP_001339705.1:p.Met193Thr
NP_001339706.1:p.Met193Thr
NP_002221.1:p.Met193Thr
NP_068831.1:p.Met193Thr
NP_068831.1:p.Met193Thr
LRG_401t2:c.578T>C
LRG_401:g.22615T>C
NC_000017.10:g.39925350A>G
NM_002230.2:c.578T>C
NM_021991.3:c.578T>C
NM_021991.4:c.578T>C

Protein change:

M193T

Links:

dbSNP: rs139496777

Molecular consequence:

NM_001352773.2:c.578T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352774.2:c.578T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352775.2:c.578T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352776.2:c.578T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352777.2:c.578T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002230.4:c.578T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_021991.4:c.578T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002648944	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Mar 7, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 27532257, 32233023 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002648944

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Mar 7, 2022)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H.

Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.

PubMed [citation]

PMID:: 27532257
PMCID:: PMC5116235

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.

Coban-Akdemir ZH, Charng WL, Azamian M, Paine IS, Punetha J, Grochowski CM, Gambin T, Valdes SO, Cannon B, Zapata G, Hernandez PP, Jhangiani S, Doddapaneni H, Hu J, Boricha F, Muzny DM, Boerwinkle E, Yang Y, Gibbs RA, Posey JE, Wehrens XHT, Belmont JW, et al.

Am J Med Genet A. 2020 Jun;182(6):1387-1399. doi: 10.1002/ajmg.a.61571. Epub 2020 Mar 31.

PubMed [citation]

PMID:: 32233023
PMCID:: PMC7275694

Details of each submission

From Ambry Genetics, SCV002648944.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Jan 3, 2026

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