ClinVar Miner

Submissions for variant NC_012920.1(MT-ATP8):m.8557G>A

dbSNP: rs386829040
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen RCV002221592 SCV002498774 benign Mitochondrial disease 2022-03-24 reviewed by expert panel curation 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.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000854235 SCV000997268 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.8557G>A (YP_003024031.1:p.Ala11Thr) variant in MTATP6 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2, BP4

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