ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6616_6618GAG[1] (p.Glu2207del) (rs587784438)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000189543 SCV000844143 pathogenic not provided 2018-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000189543 SCV000243186 pathogenic not provided 2016-03-27 criteria provided, single submitter clinical testing c.6619_6621delGAG: p.Glu2207del (E2207del) in exon 50 of the SPTAN1 gene (NM_001130438.2). The normal sequence with the bases that are deleted in braces is: GGAG{delGAG}AACG.The c.6619_6621delGAG variant in the SPTAN1 gene has been reported previously as a confirmed de novo variant in an individual with infantile spasms, profound intellectual disability, spastic paraplegia and brain atrophy (Saitsu et al., 2010). Additionally, it was reported as an assumed de novo variant in an individual with West syndrome with intractable seizures beginning at 1 month, profound ID, spastic quadriplegia with hypotonia, coloboma, and cortical atrophy (Wirtzl et al., 2012). The c.6619_6621delGAG variant results in an in-frame deletion of a single highly conserved Glutamic acid residue in the continuous helix region between the last two spectrin repeats of the SPTAN1 protein, and functional studies indicate that it leads to the aggregation of alpha/beta spectrin heterodimers (Saitsu et al., 2010; Hamdan et al., 2012). Therefore, we interpret c.6619_6621delCAG as a pathogenic variant. The variant is found in EPILEPSY panel(s).
Genetic Services Laboratory, University of Chicago RCV000147650 SCV000195099 pathogenic Early infantile epileptic encephalopathy 5 2013-02-08 criteria provided, single submitter clinical testing
OMIM RCV000147650 SCV000033973 pathogenic Early infantile epileptic encephalopathy 5 2012-06-01 no assertion criteria provided literature only

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