ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.1295C>A (p.Ala432Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics, Research Centre for Medical Genetics RCV003231068 SCV003928205 uncertain significance Developmental and epileptic encephalopathy, 41 2023-06-02 criteria provided, single submitter clinical testing The Ala432Asp variant was identified in a patient who was later diagnosed with Angelman syndrome. Confirmation of Angelman syndrome was achieved through methylation analysis and CNV analysis, which revealed a deletion at position hg19 chr15:23684685_28197044. Unfortunately, segregation analysis could not be performed due to the unavailability of family samples. It is noteworthy that the clinical presentation of the proband was more severe compared to typical patients with Angelman syndrome.

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