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

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 22, 2020
Accession:
VCV000440793.4
Variation ID:
440793
Description:
single nucleotide variant
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NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp)

Allele ID
434422
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.2
Genomic location
19: 39485570 (GRCh38) GRCh38 UCSC
19: 39976210 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.39485570C>T
NC_000019.9:g.39976210C>T
NG_051245.1:g.10159C>T
... more HGVS
Protein change
R114W
Other names
R217W
Canonical SPDI
NC_000019.10:39485569:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA405787085
OMIM: 607381.0002
dbSNP: rs1300848445
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 22, 2020 RCV001367110.1
Pathogenic 1 no assertion criteria provided Feb 1, 2021 RCV000509033.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TIMM50 - - GRCh38
GRCh37
44 52

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 22, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001563447.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
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 … (more)
Pathogenic
(Feb 01, 2021)
no assertion criteria provided
Method: literature only
3-@METHYLGLUTACONIC ACIDURIA, TYPE IX
Allele origin: germline
OMIM
Accession: SCV000606774.2
Submitted: (Oct 03, 2017)
Evidence details
Publications
Shahrour, M. A., Staretz-Chacham ,  (more...)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. Shahrour MA Clinical genetics 2017 PMID: 27573165
Shahrour, M. A., 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., and 9 others Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. Clin. Genet. 91: 690-696, 2017. - - - -

Text-mined citations for rs1300848445...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021