ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.971ATT[1] (p.Tyr325del)

dbSNP: rs1553548194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599280 SCV000710017 pathogenic not provided 2017-11-10 criteria provided, single submitter clinical testing The c.974_976delATT variant in the SCN1A gene has been reported previously as de novo in an individual with Dravet syndrome (Wu et al., 2015). This variant causes an in-frame deletion of codon Tyrosine 325, denoted p.Tyr325del. This lost residue is predicted to be within the extracellular loop between the S5 and S6 transmembrane segments of the first homologous domain. In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. The c.974_976delATT variant is not observed in large population cohorts (Lek et al., 2016). Therefore, we interpret c.974_976delATT as a pathogenic variant.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626774 SCV000747477 likely pathogenic Obesity; Seizure; Intellectual disability 2017-01-01 criteria provided, single submitter clinical testing

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