NM_001267550.2(TTN):c.93182G>A (p.Arg31061His) AND not provided

Germline classification:: Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:: Sep 25, 2025
Review status:: criteria provided, conflicting classifications

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:: RCV000184991.4

Allele description [Variation Report for NM_001267550.2(TTN):c.93182G>A (p.Arg31061His)]

NM_001267550.2(TTN):c.93182G>A (p.Arg31061His)

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.93182G>A (p.Arg31061His)

Other names:

p.R29420H:CGT>CAT

HGVS:

NC_000002.12:g.178548444C>T
NG_011618.3:g.287359G>A
NG_051363.1:g.30618C>T
NM_001256850.1:c.88259G>A
NM_001267550.2:c.93182G>AMANE SELECT
NM_003319.4:c.65987G>A
NM_133378.4:c.85478G>A
NM_133432.3:c.66362G>A
NM_133437.4:c.66563G>A
NP_001243779.1:p.Arg29420His
NP_001254479.2:p.Arg31061His
NP_003310.4:p.Arg21996His
NP_596869.4:p.Arg28493His
NP_597676.3:p.Arg22121His
NP_597681.4:p.Arg22188His
LRG_391:g.287359G>A
NC_000002.11:g.179413171C>T
NM_001267550.1:c.93182G>A
NM_003319.4:c.65987G>A

Protein change:

R21996H

Links:

dbSNP: rs727504923

Molecular consequence:

NM_001256850.1:c.88259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.93182G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.65987G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.85478G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.66362G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.66563G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000237775	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Feb 10, 2020)	germline	clinical testing	Citation Link,
SCV007297415	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Sep 25, 2025)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 31983221, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000237775

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Feb 10, 2020)

germline

clinical testing

Citation Link,

SCV007297415

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Sep 25, 2025)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	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

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From GeneDx, SCV000237775.6

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Athena Diagnostics, SCV007297415.1

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

Description

Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Computational tools disagree on the variant's effect on normal protein function.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 12, 2026

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