NM_001267550.2(TTN):c.62816G>A (p.Arg20939His) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 24, 2019
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:: RCV002334125.2

Allele description [Variation Report for NM_001267550.2(TTN):c.62816G>A (p.Arg20939His)]

NM_001267550.2(TTN):c.62816G>A (p.Arg20939His)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.62816G>A (p.Arg20939His)

HGVS:

NC_000002.12:g.178588909C>T
NG_011618.3:g.246894G>A
NG_051363.1:g.71083C>T
NM_001256850.1:c.57893G>A
NM_001267550.2:c.62816G>AMANE SELECT
NM_003319.4:c.35621G>A
NM_133378.4:c.55112G>A
NM_133432.3:c.35996G>A
NM_133437.4:c.36197G>A
NP_001243779.1:p.Arg19298His
NP_001254479.2:p.Arg20939His
NP_003310.4:p.Arg11874His
NP_596869.4:p.Arg18371His
NP_597676.3:p.Arg11999His
NP_597681.4:p.Arg12066His
LRG_391:g.246894G>A
NC_000002.11:g.179453636C>T
NM_003319.4:c.35621G>A

Protein change:

R11874H

Links:

dbSNP: rs777095470

Molecular consequence:

NM_001256850.1:c.57893G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.62816G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.35621G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.55112G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.35996G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.36197G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002618841	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 24, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002618841

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 24, 2019)

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, SCV002618841.2

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

Description

The p.R11874H variant (also known as c.35621G>A), located in coding exon 131 of the TTN gene, results from a G to A substitution at nucleotide position 35621. The arginine at codon 11874 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration 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: Jul 6, 2026

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