Submissions for variant NM_003321.5(TUFM):c.568C>T (p.Gln190Ter)

gnomAD frequency: 0.00001  dbSNP: rs764968635

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000388692	SCV000396364	uncertain significance	Combined oxidative phosphorylation defect type 4	2017-04-27	criteria provided, single submitter	clinical testing	The TUFM c.568C>T (p.Gln190Ter) variant is a stop-gained variant that is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Gln190Ter variant is reported at a frequency of 0.00006 in the South Asian population of the Exome Aggregation Consortium but this is based on only one allele in a region of good sequence coverage so the variant is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for combined oxidative phosphorylation deficiency disease. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.