NM_001267550.2(TTN):c.65369T>C (p.Ile21790Thr) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 19, 2017
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:: RCV000643505.4

Allele description [Variation Report for NM_001267550.2(TTN):c.65369T>C (p.Ile21790Thr)]

NM_001267550.2(TTN):c.65369T>C (p.Ile21790Thr)

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.65369T>C (p.Ile21790Thr)

HGVS:

NC_000002.12:g.178583813A>G
NG_011618.3:g.251990T>C
NG_051363.1:g.65987A>G
NM_001256850.1:c.60446T>C
NM_001267550.2:c.65369T>CMANE SELECT
NM_003319.4:c.38174T>C
NM_133378.4:c.57665T>C
NM_133432.3:c.38549T>C
NM_133437.4:c.38750T>C
NP_001243779.1:p.Ile20149Thr
NP_001254479.2:p.Ile21790Thr
NP_003310.4:p.Ile12725Thr
NP_596869.4:p.Ile19222Thr
NP_597676.3:p.Ile12850Thr
NP_597681.4:p.Ile12917Thr
LRG_391:g.251990T>C
NC_000002.11:g.179448540A>G
NR_038272.1:n.2659A>G

Protein change:

I12725T

Links:

dbSNP: rs727503580

Molecular consequence:

NM_001256850.1:c.60446T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.65369T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.38174T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.57665T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.38549T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.38750T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_038272.1:n.2659A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Dilated cardiomyopathy 1G (CMD1G)
Identifiers:: MONDO: MONDO:0011400; MedGen: C1858763; Orphanet: 154; OMIM: 604145

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMDR10)
Synonyms:: Limb-girdle muscular dystrophy, type 2J; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
Identifiers:: MONDO: MONDO:0012127; MedGen: C1837342; Orphanet: 140922; OMIM: 608807

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
SCV000765192	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 19, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000765192

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 19, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

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, SCV000765192.1

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

#	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

ClinVar

Relating variation to medicine