Submissions for variant NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn)

gnomAD frequency: 0.00040  dbSNP: rs374748006

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000428376	SCV000520715	benign	not specified	2017-01-17	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	RCV000548353	SCV000652519	likely benign	Developmental and epileptic encephalopathy, 36	2024-01-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000548353	SCV002524906	benign	Developmental and epileptic encephalopathy, 36	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002365496	SCV002659116	likely benign	Inborn genetic diseases	2017-09-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences	RCV003942358	SCV004762553	likely benign	ALG13-related disorder	2019-10-17	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).