Submissions for variant NM_018006.5(TRMU):c.10T>G (p.Leu4Val)

gnomAD frequency: 0.02970  dbSNP: rs114302881

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125610	SCV000169067	benign	not specified	2014-02-09	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.
Eurofins Ntd Llc (ga)	RCV000125610	SCV000332658	benign	not specified	2015-07-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000389480	SCV000439112	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.
Breakthrough Genomics, Breakthrough Genomics	RCV004703401	SCV005206601	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000389480	SCV001457196	benign	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	2020-09-16	no assertion criteria provided	clinical testing