NM_032578.4(MYPN):c.2882C>T (p.Pro961Leu) AND Dilated cardiomyopathy 1KK

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Jun 27, 2013
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000043544.7

Allele description [Variation Report for NM_032578.4(MYPN):c.2882C>T (p.Pro961Leu)]

NM_032578.4(MYPN):c.2882C>T (p.Pro961Leu)

Gene:

MYPN:myopalladin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

Preferred name:

NM_032578.4(MYPN):c.2882C>T (p.Pro961Leu)

HGVS:

NC_000010.11:g.68189083C>T
NG_032118.1:g.87967C>T
NM_001256267.2:c.2882C>T
NM_001256268.2:c.2000C>T
NM_032578.4:c.2882C>TMANE SELECT
NP_001243196.1:p.Pro961Leu
NP_001243196.1:p.Pro961Leu
NP_001243197.1:p.Pro667Leu
NP_115967.2:p.Pro961Leu
LRG_410t1:c.2882C>T
LRG_410:g.87967C>T
NC_000010.10:g.69948840C>T
NM_001256267.1:c.2882C>T
NM_032578.3:c.2882C>T
NR_045662.4:n.2419C>T
NR_045663.4:n.2956C>T
Q86TC9:p.Pro961Leu

Protein change:

P667L; PRO961LEU

Links:

UniProtKB: Q86TC9#VAR_069657; OMIM: 608517.0006; dbSNP: rs864621995

NCBI 1000 Genomes Browser:

rs864621995

Molecular consequence:

NM_001256267.2:c.2882C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256268.2:c.2000C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_032578.4:c.2882C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_045662.4:n.2419C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_045663.4:n.2956C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Dilated cardiomyopathy 1KK (CMD1KK)
Identifiers:: MONDO: MONDO:0014100; MedGen: C3714995; Orphanet: 154; Orphanet: 75249; OMIM: 615248

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000071257	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000244012	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no assertion criteria provided	Uncertain significance (Jun 27, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000071257

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2013)

germline

literature only

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

SCV000244012

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no assertion criteria provided

Uncertain significance
(Jun 27, 2013)

germline

literature only

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.

Meyer T, Ruppert V, Ackermann S, Richter A, Perrot A, Sperling SR, Posch MG, Maisch B, Pankuweit S; German Competence Network Heart Failure..

Eur J Hum Genet. 2013 Mar;21(3):294-300. doi: 10.1038/ejhg.2012.173. Epub 2012 Aug 15.

PubMed [citation]

PMID:: 22892539
PMCID:: PMC3573205

Details of each submission

From OMIM, SCV000071257.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 33-year-old Caucasian man with severely compromised left ventricular systolic function with a reduced ejection fraction of 15% and increased end-diastolic diameter of 82 mm (CMD1KK; 615248), Meyer et al. (2013) identified heterozygosity for a 2882C-T transition in exon 13 of the MYPN gene, resulting in a pro961-to-leu (P961L) substitution at a highly conserved residue in the third immunoglobulin-like domain. Histologic analysis of a left ventricular biopsy showed significant disruption of the periodic distribution of MYPN and alpha-actinin (see 102575) in cardiac myocytes.

#	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		not provided	not provided	not provided	not provided

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000244012.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	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: Feb 4, 2024

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