Submissions for variant NM_005726.6(TSFM):c.408G>A (p.Leu136=)

dbSNP: rs144109380

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000372570	SCV000380525	uncertain significance	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000875469	SCV000713935	likely benign	not provided	2019-12-05	criteria provided, single submitter	clinical testing
Invitae	RCV000875469	SCV001017802	likely benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000875469	SCV002585410	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	TSFM: BP4, BP7
Natera, Inc.	RCV000372570	SCV001463679	likely benign	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	2019-12-30	no assertion criteria provided	clinical testing