NM_032578.4(MYPN):c.1096T>C (p.Ser366Pro) AND Dilated cardiomyopathy 1KK

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 8, 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:: RCV000703192.6

Allele description [Variation Report for NM_032578.4(MYPN):c.1096T>C (p.Ser366Pro)]

NM_032578.4(MYPN):c.1096T>C (p.Ser366Pro)

Gene:

MYPN:myopalladin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

Preferred name:

NM_032578.4(MYPN):c.1096T>C (p.Ser366Pro)

HGVS:

NC_000010.11:g.68145492T>C
NG_032118.1:g.44376T>C
NM_001256267.2:c.1096T>C
NM_001256268.2:c.214T>C
NM_032578.4:c.1096T>CMANE SELECT
NP_001243196.1:p.Ser366Pro
NP_001243197.1:p.Ser72Pro
NP_115967.2:p.Ser366Pro
NP_115967.2:p.Ser366Pro
LRG_410t1:c.1096T>C
LRG_410:g.44376T>C
LRG_410p1:p.Ser366Pro
NC_000010.10:g.69905249T>C
NM_032578.2:c.1096T>C
NM_032578.3:c.1096T>C
NR_045662.4:n.633T>C
NR_045663.4:n.1333T>C

Protein change:

S366P

Links:

dbSNP: rs535795936

Molecular consequence:

NM_001256267.2:c.1096T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001256268.2:c.214T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_032578.4:c.1096T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_045662.4:n.633T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_045663.4:n.1333T>C - 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
SCV000832080	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 8, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 31983221, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000832080

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 8, 2022)

germline

clinical testing

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

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

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F, Tayal U, Buchan RJ, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, de Marvao A, Dawes TJW, Felkin LE, Ahmad M, Theotokis PI, Edwards E, Ing AY, Thomson KL, Chan LLH, Sim D, Baksi AJ, Pantazis A, Roberts AM, Watkins H, et al.

Circulation. 2020 Feb 4;141(5):387-398. doi: 10.1161/CIRCULATIONAHA.119.037661. Epub 2020 Jan 27.

PubMed [citation]

PMID:: 31983221
PMCID:: PMC7004454

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000832080.3

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

Description

This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 366 of the MYPN protein (p.Ser366Pro). This variant is present in population databases (rs535795936, gnomAD 0.01%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 31983221). ClinVar contains an entry for this variant (Variation ID: 579816). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Sep 6, 2025

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