NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 13, 2020
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:: RCV000620740.4

Allele description [Variation Report for NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp)]

NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp)

Gene:

MYPN:myopalladin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

Preferred name:

NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp)

HGVS:

NC_000010.11:g.68210426C>T
NG_032118.1:g.109310C>T
NM_001256267.2:c.3934C>T
NM_001256268.2:c.3052C>T
NM_032578.4:c.3934C>TMANE SELECT
NP_001243196.1:p.Arg1312Trp
NP_001243197.1:p.Arg1018Trp
NP_115967.2:p.Arg1312Trp
NP_115967.2:p.Arg1312Trp
LRG_410t1:c.3934C>T
LRG_410:g.109310C>T
LRG_410p1:p.Arg1312Trp
NC_000010.10:g.69970183C>T
NM_032578.2:c.3934C>T
NM_032578.3:c.3934C>T
NR_045662.4:n.3471C>T
NR_045663.4:n.4008C>T

Protein change:

R1018W

Links:

dbSNP: rs142354704

Molecular consequence:

NM_001256267.2:c.3934C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256268.2:c.3052C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_032578.4:c.3934C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_045662.4:n.3471C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_045663.4:n.4008C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000735911	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Aug 13, 2020)	germline	clinical testing	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

SCV000735911

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Aug 13, 2020)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM, Mook ORF, Alders M, Bikker H, Lekanne Dit Deprez RH, Christiaans I.

Neth Heart J. 2019 Jun;27(6):304-309. doi: 10.1007/s12471-019-1250-5.

PubMed [citation]

PMID:: 30847666
PMCID:: PMC6533346

Details of each submission

From Ambry Genetics, SCV000735911.5

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

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: Mar 7, 2026

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