ClinVar Miner

Submissions for variant NM_020708.5(SLC12A5):c.143T>C (p.Phe48Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002283928 SCV002573142 uncertain significance Developmental and epileptic encephalopathy, 34 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.90; 3Cnet: 0.63). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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