Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000757478 | SCV000885725 | uncertain significance | not provided | 2018-06-12 | criteria provided, single submitter | clinical testing | The m.8553C>T variant affects two mitochondrially-encoded genes; MT-ATP8 (c.188C>T; p.Ser63Leu) and MT-ATP6 (c.27C>T; p. Phe9Phe), and has not been associated with any disease. This variant affects a weakly conserved nucleotide, but is rare in the general population (identified in nine individuals in the MITOMAP database; 0.02% population frequency) and is not associated with any particular haplogroup. Therefore, due to limited information, the clinical significance of the m.8553C>T variant is uncertain at this time. |
Wong Mito Lab, |
RCV000854233 | SCV000997266 | likely benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.8553C>T (YP_003024030.1:p.Ser63Leu) variant in MTATP8 gene is interpretated to be a Likely Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BP6 |