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NM_003283.6(TNNT1):c.16G>T (p.Glu6Ter) AND Nemaline myopathy 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 31, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003230312.1

Allele description [Variation Report for NM_003283.6(TNNT1):c.16G>T (p.Glu6Ter)]

NM_003283.6(TNNT1):c.16G>T (p.Glu6Ter)

Gene:
TNNT1:troponin T1, slow skeletal type [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_003283.6(TNNT1):c.16G>T (p.Glu6Ter)
Other names:
E6*
HGVS:
  • NC_000019.10:g.55147142C>A
  • NG_011829.2:g.7097G>T
  • NM_001126132.3:c.16G>T
  • NM_001126133.3:c.16G>T
  • NM_001291774.2:c.16G>T
  • NM_003283.6:c.16G>TMANE SELECT
  • NP_001119604.1:p.Glu6Ter
  • NP_001119605.1:p.Glu6Ter
  • NP_001278703.1:p.Glu6Ter
  • NP_003274.3:p.Glu6Ter
  • LRG_679t1:c.16G>T
  • LRG_679:g.7097G>T
  • LRG_679p1:p.Glu6Ter
  • NC_000019.9:g.55658510C>A
Protein change:
GLU6TER
Links:
OMIM: 191041.0006
Molecular consequence:
  • NM_001126132.3:c.16G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126133.3:c.16G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001291774.2:c.16G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003283.6:c.16G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Nemaline myopathy 5 (NEM5A)
Synonyms:
Nemaline Myopathy, Amish Type; Nemaline myopathy, caused by mutation in the troponin t1 gene; Nemaline myopathy 5, Amish type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011539; MedGen: C1854380; Orphanet: 98902; OMIM: 605355

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003928021OMIM
no assertion criteria provided
Pathogenic
(May 31, 2023) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.

Géraud J, Dieterich K, Rendu J, Uro Coste E, Dobrzynski M, Marcorelle P, Ioos C, Romero NB, Baudou E, Brocard J, Coville AC, Fauré J, Koenig M, Juntas Morales R, Lacène E, Madelaine A, Marty I, Pegeot H, Theze C, Siegfried A, Cossee M, Cances C.

J Med Genet. 2021 Sep;58(9):602-608. doi: 10.1136/jmedgenet-2019-106714. Epub 2020 Sep 29.

PubMed [citation]
PMID:
32994279
PMCID:
PMC8394741

Details of each submission

From OMIM, SCV003928021.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient (patient 3) with autosomal recessive severe infantile nemaline myopathy-5A (NEM5A; 605355) resulting in death at 6 months of age, Geraud et al. (2021) identified a homozygous c.16G-T transversion (cc.74-67C-A, NM_003283.5) in the TNNT1 gene, resulting in a glu6-to-ter (E6X) substitution. Western blot analysis of patient skeletal muscle showed absence of the TNNT1 protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023