Submissions for variant NM_006517.5(SLC16A2):c.123C>T (p.Pro41=)

gnomAD frequency: 0.01028  dbSNP: rs369603991

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173413	SCV000224527	benign	not specified	2015-05-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313022	SCV000847896	benign	Inborn genetic diseases	2016-08-18	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861314	SCV001001589	benign	Spastic paraplegia	2024-01-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847802	SCV002105199	likely benign	Hereditary spastic paraplegia	2018-11-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004703440	SCV005210615	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003917600	SCV004736297	benign	SLC16A2-related disorder	2019-09-09	no assertion criteria provided	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).