ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1548C>A (p.Cys516Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV002283355 SCV002571729 likely pathogenic Creatine transporter deficiency 2022-09-01 criteria provided, single submitter research ACMG codes:PVS1, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV002283355 SCV005746596 pathogenic Creatine transporter deficiency 2024-04-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys516*) in the SLC6A8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC6A8 are known to be pathogenic (PMID: 22281021). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC6A8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1705030). For these reasons, this variant has been classified as Pathogenic.

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