Submissions for variant NM_001099922.3(ALG13):c.3039A>G (p.Val1013=)

gnomAD frequency: 0.00394  dbSNP: rs183032531

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000421106	SCV000523926	benign	not specified	2016-06-30	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	RCV000459668	SCV000554242	benign	Developmental and epileptic encephalopathy, 36	2024-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000421106	SCV000612316	benign	not specified	2017-06-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000459668	SCV002524944	benign	Developmental and epileptic encephalopathy, 36	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436284	SCV002752843	benign	Inborn genetic diseases	2017-07-21	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV000459668	SCV002797508	likely benign	Developmental and epileptic encephalopathy, 36	2021-10-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003942373	SCV004761788	benign	ALG13-related disorder	2020-01-02	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).