ClinVar Miner

Submissions for variant NM_003201.3(TFAM):c.441del (p.Glu148fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM 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.

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