Submissions for variant NM_003321.5(TUFM):c.520-8A>T

gnomAD frequency: 0.00116  dbSNP: rs145900455

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126185	SCV000169680	benign	not specified	2013-12-30	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.
Invitae	RCV000907699	SCV001052422	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001590	SCV001159000	benign	Combined oxidative phosphorylation defect type 4	2023-08-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001001590	SCV001277614	likely benign	Combined oxidative phosphorylation defect type 4	2018-01-13	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
PreventionGenetics, part of Exact Sciences	RCV003952658	SCV004770398	benign	TUFM-related disorder	2019-08-02	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
CeGaT Center for Human Genetics Tuebingen	RCV000907699	SCV004810851	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	TUFM: BP4, BS1, BS2