NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 22, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001367110.1

Allele description [Variation Report for NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp)]

NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp)

Gene:
TIMM50:translocase of inner mitochondrial membrane 50 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp)
Other names:
R217W
HGVS:
  • NC_000019.10:g.39485570C>T
  • NG_051245.1:g.10159C>T
  • NM_001001563.5:c.340C>TMANE SELECT
  • NM_001329559.2:c.34-118C>T
  • NP_001001563.2:p.Arg114Trp
  • NC_000019.9:g.39976210C>T
  • NM_001001563.1:c.649C>T
Protein change:
R114W; ARG217TRP
Links:
OMIM: 607381.0002; dbSNP: rs1300848445
NCBI 1000 Genomes Browser:
rs1300848445
Molecular consequence:
  • NM_001329559.2:c.34-118C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001001563.5:c.340C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001563447Invitaecriteria provided, single submitter
Uncertain significance
(Jul 22, 2020)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.

Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A; NISC Intramural Sequencing., Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC.

Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12.

PubMed [citation]
PMID:
27573165
PMCID:
PMC8359539

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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001563447.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change replaces arginine with tryptophan at codon 217 of the TIMM50 protein (p.Arg217Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of epileptic encephalopathy (PMID: 27573165). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 440793). This variant has been reported to have conflicting or insufficient data to determine the effect on TIMM50 protein function (PMID: 27573165). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2021

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