ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr)

dbSNP: rs1603217815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen RCV000825023 SCV002600168 uncertain significance Creatine transporter deficiency 2022-06-06 reviewed by expert panel curation The NM_005629.4: c.1703C>A variant in SLC6A8 is a missense variant predicted to cause substitution of Serine for Tyrosine at amino acid 568 (p.Ser568Tyr). This variant is absent in population databases (PM2_Supporting). The computational predictor REVEL gives a score of 0.9369 which is above the threshold of 0.75, evidence that correlates with impact to SLC6A8 function (PP3) To our knowlledge, this variant has not been previously reported in affected individuals in the literature. There is a ClinVar entry for this variant (Variation ID: 666596). In summary, this variant meets the criteria to be classified as a variant of uncertain significance 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): PM2_Supporting, PP3. (Classification approved by the ClinGen CCDS VCEP on June 6, 2022).
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000825023 SCV000966218 pathogenic Creatine transporter deficiency 2018-08-07 criteria provided, single submitter clinical testing

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