ClinVar

Description

The m.8857G>A (p.A11T) variant in MT-ATP6 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 seen at high frequencies across multiple haplogroups in the GenBank dataset (BS1_stand alone) including in haplogroup R7b (100% of individuals however only 9 sequences), H32 (89% of individuals however only 8/9 sequences), M30f (80% of individuals), M11d (67% of individuals), J1B (46% of individuals out of 390 sequences), X1c (40% of individuals), M52b (21% of individuals), D1g (10% of individuals), H7c (8% of individuals), and I2 (7% of individuals). If an affected individual is not a member of one of these haplogroups, further evaluation of the variant in that particular individual should be considered. In summary, this variant meets criteria to be classified as benign given high frequency in the general population across multiple haplogroups. 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: BS1_stand alone.