Submissions for variant NM_032273.4(TMEM126A):c.96T>G (p.Leu32=)

gnomAD frequency: 0.00220  dbSNP: rs36100288

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125526	SCV000168978	benign	not specified	2012-12-21	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)	RCV000676591	SCV000332356	uncertain significance	not provided	2017-09-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000334757	SCV000374705	likely benign	Autosomal recessive optic atrophy, OPA7 type	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000676591	SCV001099508	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000676591	SCV004131228	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	TMEM126A: BP4, BP7
Mayo Clinic Laboratories, Mayo Clinic	RCV000676591	SCV000802379	likely benign	not provided	2016-02-26	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905200	SCV004723543	likely benign	TMEM126A-related disorder	2019-10-16	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).