ClinVar Miner

Submissions for variant NM_003705.5(SLC25A12):c.410T>C (p.Phe137Ser)

dbSNP: rs2105895501
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV001837056 SCV002097321 likely pathogenic Developmental and epileptic encephalopathy, 39 2022-02-15 no assertion criteria provided clinical testing This novel homozygous variant c.410T>C (p.Phe137Ser) was identified in a patient with intellectual disability, seizures, neuroregression, contractures, hip dislocation and MRI showing diffuse cerebral atrophy.

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