Submissions for variant NM_033409.4(SLC52A3):c.9C>T (p.Phe3=)

gnomAD frequency: 0.00809  dbSNP: rs139486822

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV003891975	SCV000315231	benign	SLC52A3-related condition	2021-05-06	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).
Invitae	RCV000554051	SCV000657537	benign	Brown-Vialetto-van Laere syndrome 1	2024-02-01	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000246921	SCV000713605	benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Phe3Phe in exon 2 of SLC52A3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.94% (566/60078) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs139486822).
GeneDx	RCV001660355	SCV001873482	benign	not provided	2020-09-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379089	SCV002691495	likely benign	Inborn genetic diseases	2019-07-11	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.
Fulgent Genetics, Fulgent Genetics	RCV002500930	SCV002804327	likely benign	Brown-Vialetto-van Laere syndrome 1; Progressive bulbar palsy of childhood	2021-07-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001660355	SCV004149749	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	SLC52A3: BP4, BP7, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001660355	SCV004563866	benign	not provided	2023-10-10	criteria provided, single submitter	clinical testing