NM_001267550.2(TTN):c.53069T>C (p.Leu17690Pro) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 15, 2016
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:: RCV000467895.4

Allele description [Variation Report for NM_001267550.2(TTN):c.53069T>C (p.Leu17690Pro)]

NM_001267550.2(TTN):c.53069T>C (p.Leu17690Pro)

Genes:

LOC126806425:BRD4-independent group 4 enhancer GRCh37_chr2:179471933-179473132 [Gene]
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.53069T>C (p.Leu17690Pro)

HGVS:

NC_000002.12:g.178607619A>G
NG_011618.3:g.228184T>C
NG_051363.1:g.89793A>G
NM_001256850.1:c.48146T>C
NM_001267550.2:c.53069T>CMANE SELECT
NM_003319.4:c.25874T>C
NM_133378.4:c.45365T>C
NM_133432.3:c.26249T>C
NM_133437.4:c.26450T>C
NP_001243779.1:p.Leu16049Pro
NP_001254479.2:p.Leu17690Pro
NP_003310.4:p.Leu8625Pro
NP_596869.4:p.Leu15122Pro
NP_597676.3:p.Leu8750Pro
NP_597681.4:p.Leu8817Pro
LRG_391:g.228184T>C
NC_000002.11:g.179472346A>G

Protein change:

L15122P

Links:

dbSNP: rs370469461

NCBI 1000 Genomes Browser:

rs370469461

Molecular consequence:

NM_001256850.1:c.48146T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.53069T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.25874T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.45365T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.26249T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.26450T>C - missense variant - [Sequence Ontology: SO:0001583]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000542458	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 15, 2016)	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

SCV000542458

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 15, 2016)

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, SCV000542458.2

#	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: May 16, 2025

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