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NM_012123.4(MTO1):c.937C>T (p.Arg313Ter) AND Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 14, 2023
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:
RCV003647021.2

Allele description [Variation Report for NM_012123.4(MTO1):c.937C>T (p.Arg313Ter)]

NM_012123.4(MTO1):c.937C>T (p.Arg313Ter)

Gene:
MTO1:mitochondrial tRNA translation optimization 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q13
Genomic location:
Preferred name:
NM_012123.4(MTO1):c.937C>T (p.Arg313Ter)
HGVS:
  • NC_000006.12:g.73479843C>T
  • NG_032856.2:g.23113C>T
  • NG_032856.3:g.23108C>T
  • NM_001123226.2:c.937C>T
  • NM_012123.4:c.937C>TMANE SELECT
  • NM_133645.3:c.937C>T
  • NP_001116698.1:p.Arg313Ter
  • NP_036255.2:p.Arg313Ter
  • NP_598400.1:p.Arg313Ter
  • NC_000006.11:g.74189566C>T
Protein change:
R313*
Molecular consequence:
  • NM_001123226.2:c.937C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_012123.4:c.937C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133645.3:c.937C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Synonyms:
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS; Combined oxidative phosphorylation deficiency 10
Identifiers:
MONDO: MONDO:0013865; MedGen: C4749921; Orphanet: 314637; OMIM: 614702

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004529857Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 14, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.

Ghezzi D, Baruffini E, Haack TB, Invernizzi F, Melchionda L, Dallabona C, Strom TM, Parini R, Burlina AB, Meitinger T, Prokisch H, Ferrero I, Zeviani M.

Am J Hum Genet. 2012 Jun 8;90(6):1079-87. doi: 10.1016/j.ajhg.2012.04.011. Epub 2012 May 17.

PubMed [citation]
PMID:
22608499
PMCID:
PMC3370278

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, et al.

JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.

PubMed [citation]
PMID:
25058219
PMCID:
PMC6558267
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004529857.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg313*) in the MTO1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTO1 are known to be pathogenic (PMID: 22608499, 25058219). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MTO1-related conditions.

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

Last Updated: Sep 29, 2024