ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4640T>A (p.Leu1547Gln)

dbSNP: rs1856289676
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) RCV001328004 SCV001519335 likely pathogenic Developmental and epileptic encephalopathy, 5 2021-01-14 no assertion criteria provided clinical testing The variant was detected in a 4-year-old boy with generalized tonic-clonic epilepsy. The c.4640T>A variant in the SPTAN1 gene (NM_001130438.3) consists of an amino acid change (p.Leu1547Gln). This alteration has not been reported previously in the literature and it is not detected in the general population. The in-silico tools predict that it is very likely to affect the protein function. Pathological variants in the SPTAN1 gene are associated with the phenotype of Developmental and epileptic encephalopathy 5 (OMIM: 613477) with autosomal dominant inheritance. The genetic study of the parents was carried out using the Sanger sequencing method and they did not present the alteration, so it is a de novo variant in the child. Therefore, the clinical significance of the c.4640T>A variant is likely pathogenic.

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