Submissions for variant NM_018006.5(TRMU):c.272A>G (p.Lys91Arg)

gnomAD frequency: 0.00002  dbSNP: rs138044544

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000196270	SCV000252408	benign	not specified	2016-07-05	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	RCV000291761	SCV000439116	benign	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000923546	SCV001069026	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000291761	SCV001464237	benign	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	2020-01-12	no assertion criteria provided	clinical testing