ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys)

dbSNP: rs1569539246
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680099 SCV000807540 uncertain significance Creatine transporter deficiency 2017-09-01 criteria provided, single submitter clinical testing Possible pathogenicity based on finding it once in our laboratory maternally inherited in a 7-year-old male with developmental delay, hypotonia, speech delay; mother has psychiatric disorder. Urinary creatine results consistent with CCDS1.

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