ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.87G>C (p.Gly29=)

gnomAD frequency: 0.00011  dbSNP: rs782373793
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen RCV000554178 SCV002600169 benign Creatine transporter deficiency 2022-06-06 reviewed by expert panel curation The NM_005629.4(SLC6A8):c.87G>C (p.Gly29=) variant in SLC6A8 is a synonymous single nucleotide variant that does not change the amino acid sequence at this position. In gnomAD v2.1.1, the highest population minor allele frequency is 0.005489 (62/11296 alleles) in the European population, with 10 hemizygotes present. The presence of 10 hemizygotes in the gnomAD dataset meets BA1 standalone criteria for Creatine Transporter Deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel (<10 hemizygotes in population database). This variant has not been previously reported in affected individuals in the literature. There is a ClinVar entry for this variant (Variation ID:380589). In summary, this variant meets the criteria to be classified as Benign for Creatine Transporter Deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel (Specifications Version 1.0): BA1. (Classification approved by the ClinGen CCDS VCEP on June 6, 2022).
GeneDx RCV001703606 SCV000518804 benign not provided 2018-07-18 criteria provided, single submitter clinical testing
Invitae RCV000554178 SCV000640037 likely benign Creatine transporter deficiency 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313053 SCV000848279 likely benign Inborn genetic diseases 2016-11-18 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.
CeGaT Center for Human Genetics Tuebingen RCV001703606 SCV004702958 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing SLC6A8: BP4, BP7, BS2

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.