Submissions for variant NM_018006.5(TRMU):c.718C>T (p.Arg240Ter) (rs367683258)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000200369	SCV000252410	pathogenic	not provided	2014-04-02	criteria provided, single submitter	clinical testing	p.Arg240Stop (R240X) CGA>TGA: c.718 C>T in exon 7 of the TRMU gene (NM_018006.4). The R240X nonsense mutation in the TRMU gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously, other protein truncating mutations in the TRMU gene have been reported in association with infantile liver failure or combined respiratory chain deficiency. The variant is found in LAPDH-MITOP panel(s).
Invitae	RCV000200369	SCV001418718	pathogenic	not provided	2019-11-18	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg240*) in the TRMU gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs367683258, ExAC 0.001%). This variant has been observed in individual(s) with an unspecified abnormality of the mitochondrion (PMID: 26633542). ClinVar contains an entry for this variant (Variation ID: 215287). Loss-of-function variants in TRMU are known to be pathogenic (PMID: 19732863, 23625533). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc.	RCV001273736	SCV001457203	pathogenic	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	2020-09-16	no assertion criteria provided	clinical testing