ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.457dup (p.Ala153fs)

dbSNP: rs1603215013
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807177 SCV000947219 pathogenic Creatine transporter deficiency 2021-01-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with SLC6A8-related conditions. ClinVar contains an entry for this variant (Variation ID: 651752). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala153Glyfs*36) 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).

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