Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003337864 | SCV004048235 | likely pathogenic | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | criteria provided, single submitter | clinical testing | The frameshift variant c.441del(p.Glu148SerfsTer2) in TFAM gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu148SerfsTer2 variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 1.105% is reported in gnomAD. However this might not represent true frequency as the variant has been tagged as 'failed random forest filter' This variant causes a frameshift starting with codon Glutamic Acid 148, changes this amino acid to Serine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Glu148SerfsTer2.For these reasons, this variant has been classified as Likely Pathogenic In the absence of a second reportable variant the molecular diagnosis is not confirmed. |