Submissions for variant NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr)

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Minimum conflict level: Report conflict between different conditions
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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000283135	SCV000407649	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.
Athena Diagnostics	RCV000713023	SCV000843590	benign	not provided	2017-12-21	criteria provided, single submitter	clinical testing
Invitae	RCV000713023	SCV001119073	likely benign	not provided	2023-12-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000713023	SCV001772126	uncertain significance	not provided	2021-11-26	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
PreventionGenetics, part of Exact Sciences	RCV003912361	SCV004735940	likely benign	AFG3L2-related disorder	2022-05-10	criteria provided, single submitter	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).

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