NM_032578.4(MYPN):c.1446G>T (p.Arg482Ser) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 29, 2025
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:: RCV006347690.1

Allele description [Variation Report for NM_032578.4(MYPN):c.1446G>T (p.Arg482Ser)]

NM_032578.4(MYPN):c.1446G>T (p.Arg482Ser)

Gene:

MYPN:myopalladin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

Preferred name:

NM_032578.4(MYPN):c.1446G>T (p.Arg482Ser)

HGVS:

NC_000010.11:g.68158614G>T
NG_032118.1:g.57498G>T
NM_001256267.2:c.1446G>T
NM_001256268.2:c.564G>T
NM_032578.2:c.1446G>T
NM_032578.4:c.1446G>TMANE SELECT
NP_001243196.1:p.Arg482Ser
NP_001243197.1:p.Arg188Ser
NP_115967.2:p.Arg482Ser
LRG_410:g.57498G>T
NC_000010.10:g.69918371G>T
NR_045662.4:n.983G>T
NR_045663.4:n.1683G>T

Protein change:

R188S

Links:

dbSNP: rs1016349010

Molecular consequence:

NM_001256267.2:c.1446G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256268.2:c.564G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_032578.4:c.1446G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_045662.4:n.983G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_045663.4:n.1683G>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
SCV007215570	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 29, 2025)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV007215570

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 29, 2025)

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

Details of each submission

From Ambry Genetics, SCV007215570.1

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

Description

The p.R482S variant (also known as c.1446G>T), located in coding exon 6 of the MYPN gene, results from a G to T substitution at nucleotide position 1446. The arginine at codon 482 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

#	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: Feb 15, 2026

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