NM_014820.5(TOMM70):c.1820C>T (p.Thr607Ile) AND TOMM70-related neurodevelopmental disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 10, 2020
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:
RCV001090140.2

Allele description [Variation Report for NM_014820.5(TOMM70):c.1820C>T (p.Thr607Ile)]

NM_014820.5(TOMM70):c.1820C>T (p.Thr607Ile)

Gene:
TOMM70:translocase of outer mitochondrial membrane 70 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q12.2
Genomic location:
Preferred name:
NM_014820.5(TOMM70):c.1820C>T (p.Thr607Ile)
HGVS:
  • NC_000003.12:g.100365571G>A
  • NM_014820.5:c.1820C>TMANE SELECT
  • NP_055635.3:p.Thr607Ile
  • NC_000003.11:g.100084415G>A
  • NM_014820.4:c.1820C>T
  • p.Thr607Ile
Protein change:
T607I
Links:
dbSNP: rs1706440222
NCBI 1000 Genomes Browser:
rs1706440222
Molecular consequence:
  • NM_014820.5:c.1820C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
TOMM70-related neurodevelopmental disorder
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001245585Undiagnosed Diseases Network, NIH
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jan 10, 2020)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Causasiansde novoyes11not providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753
PMC

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Undiagnosed Diseases Network, NIH, SCV001245585.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Causasians1not providednot providedclinical testing PubMed (1)

Description

Fly data indicates variant is hypomorphic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providedbloodnot provided1not provided1not provided

Last Updated: Aug 15, 2022