Submissions for variant NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys)

gnomAD frequency: 0.00024  dbSNP: rs201055779

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000560629	SCV000533843	likely benign	not provided	2019-06-20	criteria provided, single submitter	clinical testing	In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Invitae	RCV001081537	SCV000652514	benign	Developmental and epileptic encephalopathy, 36	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000560629	SCV001150431	likely benign	not provided	2019-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001081537	SCV002524943	benign	Developmental and epileptic encephalopathy, 36	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436344	SCV002748871	likely benign	Inborn genetic diseases	2018-02-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV003970231	SCV004778113	likely benign	ALG13-related condition	2019-12-13	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).