Submissions for variant NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys)

gnomAD frequency: 0.03308  dbSNP: rs34152016

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125606	SCV000169063	benign	not specified	2013-12-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina	RCV000285765	SCV000439136	likely benign	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000755413	SCV000605441	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV000755413	SCV001105103	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000285765	SCV001458238	benign	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	2020-09-16	no assertion criteria provided	clinical testing