Submissions for variant NM_005629.4(SLC6A8):c.1768-3C>T

gnomAD frequency: 0.00435  dbSNP: rs150207268

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194462	SCV000248924	benign	not specified	2017-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082123	SCV000288959	benign	Creatine transporter deficiency	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315504	SCV000848549	benign	Inborn genetic diseases	2016-05-05	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.
Athena Diagnostics	RCV000233099	SCV001145706	benign	not provided	2018-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000233099	SCV001868177	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV001082123	SCV003920489	likely benign	Creatine transporter deficiency	2022-05-18	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.7% (84/10760) including 39 hemizygotes (https://gnomad.broadinstitute.org/variant/X-153695071-C-T?dataset=gnomad_r3). This variant is present in ClinVar, with several labs classifying this variant as Benign (Variation ID:212213). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Computational prediction tools do not suggest that it alters splicing. However, further studies are needed to understand its impact. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000194462	SCV001927491	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000233099	SCV001973385	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001828019	SCV002084580	likely benign	Creatine deficiency syndrome 1	2019-12-20	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927808	SCV004739362	benign	SLC6A8-related disorder	2019-05-15	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).