NM_032578.4(MYPN):c.3913A>G (p.Met1305Val) AND Dilated cardiomyopathy 1KK

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 11, 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:: RCV000476557.7

Allele description [Variation Report for NM_032578.4(MYPN):c.3913A>G (p.Met1305Val)]

NM_032578.4(MYPN):c.3913A>G (p.Met1305Val)

Gene:

MYPN:myopalladin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

Preferred name:

NM_032578.4(MYPN):c.3913A>G (p.Met1305Val)

HGVS:

NC_000010.11:g.68210405A>G
NG_032118.1:g.109289A>G
NM_001256267.2:c.3913A>G
NM_001256268.2:c.3031A>G
NM_032578.4:c.3913A>GMANE SELECT
NP_001243196.1:p.Met1305Val
NP_001243196.1:p.Met1305Val
NP_001243197.1:p.Met1011Val
NP_115967.2:p.Met1305Val
NP_115967.2:p.Met1305Val
LRG_410t1:c.3913A>G
LRG_410:g.109289A>G
LRG_410p1:p.Met1305Val
NC_000010.10:g.69970162A>G
NM_001256267.1:c.3913A>G
NM_032578.2:c.3913A>G
NM_032578.3:c.3913A>G
NM_032578.4:c.3913A>G
NR_045662.4:n.3450A>G
NR_045663.4:n.3987A>G

Protein change:

M1011V

Links:

dbSNP: rs730880170

NCBI 1000 Genomes Browser:

rs730880170

Molecular consequence:

NM_001256267.2:c.3913A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001256268.2:c.3031A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_032578.4:c.3913A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_045662.4:n.3450A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_045663.4:n.3987A>G - 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
SCV000553457	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 11, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 28416588, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000553457

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 11, 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

Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy.

Dal Ferro M, Stolfo D, Altinier A, Gigli M, Perrieri M, Ramani F, Barbati G, Pivetta A, Brun F, Monserrat L, Giacca M, Mestroni L, Merlo M, Sinagra G.

Heart. 2017 Nov;103(21):1704-1710. doi: 10.1136/heartjnl-2016-311017. Epub 2017 Apr 17.

PubMed [citation]

PMID:: 28416588

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, SCV000553457.6

#	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 methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1305 of the MYPN protein (p.Met1305Val). This variant is present in population databases (rs730880170, gnomAD 0.01%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 28416588). ClinVar contains an entry for this variant (Variation ID: 180453). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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: Oct 20, 2024

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