ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.26G>T (p.Gly9Val)

gnomAD frequency: 0.00006  dbSNP: rs1198790754
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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 RCV000692670 SCV002600190 likely benign Creatine transporter deficiency 2022-06-06 reviewed by expert panel curation The NM_005629.4: c.26G>T variant in SLC6A8 is a missense variant predicted to cause substitution of Glycine for Valine at amino acid 9 (p.Gly9Val). The highest population minor allele frequency in gnomAD v2.1.1 is 0.00019 (14/74655 alleles) in the European population. Additionally, there are 5 hemizygotes in gnomAD v2.1.1, which is higher than the ClinGen CCDS VCEP’s threshold for BS1 (<5 hemizygotes in gnomAD). The computational predictor REVEL gives a score of 0.146 which is below the threshold of 0.25, evidence that does not predict a damaging effect on SLC6A8 function (PP3). To our knowledge, this variant has not been previously reported in affected individuals in the literature. There is a ClinVar entry for this variant (Variation ID:571505). In summary, this variant meets the criteria to be classified as Likely 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 1.1.0): BS1, BP4. (Classification approved by the ClinGen CCDS VCEP on June 6, 2022).
Invitae RCV000692670 SCV000820506 likely benign Creatine transporter deficiency 2023-07-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830511 SCV002084542 benign Creatine deficiency syndrome 1 2019-11-11 no assertion criteria provided clinical testing

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.