Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000757487 | SCV000885735 | uncertain significance | not provided | 2018-05-26 | criteria provided, single submitter | clinical testing | The m.10931T>C variant affects the mitochondrially-encoded MT-ND4 gene. Although the m.10931T>C variant is rare in the general population (identified in six individuals in the MITOMAP database), it has not been reported in association with a mitochondrial disorder and affects a weakly conserved amino acid (Alamut software v2.11.0). Therefore, due to limited information, the clinical significance of the m.10931T>C variant is uncertain at this time. |
Wong Mito Lab, |
RCV000854693 | SCV000997735 | likely benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.10931T>C (YP_003024035.1:p.Ser58Pro) variant in MTND4 gene is interpretated to be a Likely Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS4, BP4, BP6 |