ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4804G>A (p.Ala1602Thr)

dbSNP: rs776999454
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV002260574 SCV002540268 uncertain significance Developmental and epileptic encephalopathy, 5 2022-02-17 criteria provided, single submitter clinical testing The SPTAN1 c.4804G>A (p.Ala1602Thr) missense variant results in the substitution of alanine at position 1602 with threonine. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is reported in the Genome Aggregation Database in one allele at a frequency of 0.000009 in the European (non-Finnish) population (version 2.1.1). Based on the available evidence, the c.4804G>A (p.Ala1602Thr) variant is classified as a variant of uncertain significance for SPTAN1-related developmental and epileptic encephalopathy.

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