Submissions for variant NM_203446.3(SYNJ1):c.1030G>A (p.Ala344Thr)

gnomAD frequency: 0.00255  dbSNP: rs114942253

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001086242	SCV000660123	likely benign	Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53	2024-01-24	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000535919	SCV001146046	likely benign	not provided	2019-03-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000535919	SCV001787612	likely benign	not provided	2021-01-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32557143, 27393345)
CeGaT Center for Human Genetics Tuebingen	RCV000535919	SCV004153102	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	SYNJ1: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003952905	SCV004772472	likely benign	SYNJ1-related disorder	2022-06-27	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).
Ambry Genetics	RCV004024435	SCV004961669	likely benign	Inborn genetic diseases	2022-01-31	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.