Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • No ClinVar Id was directly found from the curated document
  • ClinVar Id was derived from the Allele Registry.
  • There was no gene found in the curated document received from the VCI/VCEP
  • Gene listed was thus derived from ClinVar and/or CAR
  • See Evidence submitted by expert panel for details.

Variant: NC_012920.1:m.10034T>C

CA337098672

690104 (ClinVar)

Gene: MT-TG
Condition: mitochondrial disease
Inheritance Mode: Mitochondrial inheritance
Link to MONDO
UUID: c17849eb-b850-4e6c-8079-eeb8a1ef6abb
Approved on: 2022-03-24
Published on: 2022-03-24

HGVS expressions

NC_012920.1:m.10034T>C
J01415.2:m.10034T>C

Benign

Met criteria codes 2
BP4 BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Mitochondrial Diseases VCEP
The m.10034T>C variant in MT-TG was reviewed by the Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel as part of the variant pilot for mitochondrial DNA variant specifications (McCormick et al., 2020; PMID: 32906214). This variant is associated with haplogroup I (almost 100% of individuals in this haplogroup have this variant) and the overall allele frequency in the GenBank database is 1.553% (BA1). Additionally, the computational predictor MitoTIP suggests this variant is benign (6.7th percentile) and HmtVAR predicts it to be polymorphic (BP4). In summary, this variant meets criteria to be classified as benign. This classification was approved by the NICHD U24 Mitochondrial Disease Variant Curation Expert Panel as of August 20, 2020. Mitochondrial DNA-specific ACMG/AMP criteria applied: BA1, BP4.
Met criteria codes
BP4
The computational predictor MitoTIP suggests this variant is benign (6.7th percentile) and HmtVAR predicts it to be polymorphic (BP4).
BA1
This variant is associated with haplogroup I (almost 100% of individuals in this haplogroup have this variant) and the overall allele frequency in the GenBank database is 1.553% (BA1).
Curation History
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