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]
  • Despite there being a valid 'cspec' property in the messages there's a discrepancy in message contents and CSPEC data: * Message Gene: MT-TF CSPEC Genes: [] * Message MONDOs: MONDO:0044970 CSPEC MONDO: []
  • No CSPEC computed assertion could be determined for this classification!

Variant: NC_012920.1(MT-CYB):m.1027A>G

CA273573

178943 (ClinVar)

Gene: MT-TF
Condition: mitochondrial disease
Inheritance Mode: Mitochondrial inheritance
Link to MONDO
UUID: bb141041-929f-48b7-9bbd-ffb47589d19c
Approved on: 2024-08-12
Published on: 2025-04-30

HGVS expressions

NC_012920.1:m.1027A>G
J01415.2:m.1027A>G

Uncertain Significance

Not Met criteria codes 7
BP4 PS2 PS4 PS3 PP3 PP1 PM6

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Mitochondrial Diseases VCEP
The m.1027A>G variant in MT-RNR1 has been reported in six unrelated individuals with primary mitochondrial disease. All had hearing loss (4/6 had aminoglycoside exposure; PMIDs: 21205314, 20100600). The variant was present at homoplasmy in both affected and unaffected individuals from these families. There are no de novo occurrences of this variant to our knowledge. This variant is present in population databases (MITOMAP: 0.028%; gnomAD v3.1.2: 0.025%; Helix: 0.037%). There are no in silico predictors for this type of variant in mitochondrial DNA. There are no cybrids, single fiber studies, or other functional assays reported on this variant. In summary, this variant meets criteria to be classified as uncertain significance for primary mitochondrial disease inherited in a mitochondrial manner. This classification was approved by the NICHD/NINDS U24 ClinGen Mitochondrial Disease Variant Curation Expert Panel on August 12, 2024. Mitochondrial DNA-specific ACMG/AMP criteria applied (PMID: 32906214): None.
Not Met criteria codes
BP4
There are no in silico predictors for this type of variant in mitochondrial DNA.
PS2
There are no de novo occurrences to our knowledge.
PS4
The m.1027A>G variant in MT-RNR1 has been reported in six unrelated individuals with primary mitochondrial disease. All had hearing loss (4/6 had aminoglycoside exposure).
PS3
There are no cybrids, single fiber studies, or other functional assays reported on this variant.
PP3
There are no in silico predictors for this type of variant in mitochondrial DNA.
PP1
The variant was present at homoplasmy in both affected and unaffected individuals from these families.
PM6
There are no de novo occurrences to our knowledge.
Curation History
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