Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035050 | SCV000058690 | likely benign | not specified | 2014-07-31 | criteria provided, single submitter | clinical testing | 7471C>T in MTTS1: This variant is not expected to have clinical significance bec ause this variant has been found in the general population with haplogroup-speci fic frequencies ranging from 0.3% to 1.5% (http://www.mitomap.org). Additionally , this variant is reported as a branching polymorphism in phylogeny studies and belongs to H1ax mitochondrial haplogroup (Behar 2012). |
Wong Mito Lab, |
RCV000850890 | SCV000993124 | benign | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2019-07-12 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.7471C>T variant in MT-TS1 gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS2, BP4 |