NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val) AND Cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 5, 2023
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:: RCV001185017.4

Allele description [Variation Report for NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val)]

NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val)

Gene:

TMEM43:transmembrane protein 43 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val)

HGVS:

NC_000003.12:g.14141742C>G
NG_008975.1:g.21803C>G
NM_024334.3:c.1150C>GMANE SELECT
NP_077310.1:p.Leu384Val
NP_077310.1:p.Leu384Val
LRG_435t1:c.1150C>G
LRG_435:g.21803C>G
LRG_435p1:p.Leu384Val
NC_000003.11:g.14183242C>G
NM_024334.2:c.1150C>G

Protein change:

L384V

Links:

dbSNP: rs193922706

NCBI 1000 Genomes Browser:

rs193922706

Molecular consequence:

NM_024334.3:c.1150C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiomyopathy (CMYO)
Synonyms:: Cardiomyopathies
Identifiers:: MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001351141	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 5, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 28750076, 31760239, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001351141

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 5, 2023)

germline

clinical testing

PubMed (3)
[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

Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.

Forleo C, D'Erchia AM, Sorrentino S, Manzari C, Chiara M, Iacoviello M, Guaricci AI, De Santis D, Musci RL, La Spada A, Marangelli V, Pesole G, Favale S.

PLoS One. 2017;12(7):e0181842. doi: 10.1371/journal.pone.0181842.

PubMed [citation]

PMID:: 28750076
PMCID:: PMC5531468

Postmortem diagnosis of left dominant arrhythmogenic cardiomyopathy: the importance of a multidisciplinary network for sudden death victims. "HIC mors gaudet succurere vitae".

Graziosi M, Leone O, Foà A, Agostini V, Ditaranto R, Foroni M, Rossi C, Lovato L, Seri M, Rapezzi C.

Cardiovasc Pathol. 2020 Jan - Feb;44:107157. doi: 10.1016/j.carpath.2019.107157. Epub 2019 Oct 10.

PubMed [citation]

PMID:: 31760239

See all PubMed Citations (3)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001351141.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This missense variant replaces leucine with valine at codon 384 of the TMEM43 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with dilated cardiomyopathy who also carried an additional variant in MYBPC3 (PMID: 28750076). It has also been reported in an individual affected with sudden cardiac death who also carried an additional variant in DSP that appeared to segregate with arrhythmogenic left ventricular cardiomyopathy in an affected child (PMID: 31760239). This variant has been identified in 15/282786 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is 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: Aug 11, 2024

ClinVar

Relating variation to medicine