Submissions for variant NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)

dbSNP: rs117182113

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000488282	SCV000251087	likely benign	not provided	2021-09-20	criteria provided, single submitter	clinical testing	Reported in heterozygous state in the published literature in an individual with infantile onset lactic acidosis and hypertrophic cardiomyopathy, however this individual's unaffected mother was also heterozygous for this variant (Vasta et al., 2012) In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect This variant is associated with the following publications: (PMID: 22494076, 27165006)
Illumina Laboratory Services, Illumina	RCV000369996	SCV000407639	benign	Spinocerebellar ataxia type 28	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.
CeGaT Center for Human Genetics Tuebingen	RCV000488282	SCV000575130	uncertain significance	not provided	2024-11-01	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000488282	SCV000802467	uncertain significance	not provided	2021-06-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000488282	SCV001101683	likely benign	not provided	2024-12-02	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262989	SCV001441055	uncertain significance	Spastic ataxia 5	2019-01-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000488282	SCV001474594	uncertain significance	not provided	2023-10-02	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000197194	SCV001880330	benign	not specified	2020-11-10	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV000369996	SCV005900393	likely benign	Spinocerebellar ataxia type 28	2024-06-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004755808	SCV005344569	likely benign	AFG3L2-related disorder	2024-06-27	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).