ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del) (rs398122865)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657889 SCV000779652 pathogenic not provided 2018-05-04 criteria provided, single submitter clinical testing The c.6605_6607delAGC variant in the SPTAN1 gene has been reported previously as a de novo variant in an individual with severe intellectual disability, mild generalized epilepsy, and pontocerebellar atrophy (Hamdan et al., 2012). This variant causes an in-frame deletion of Glutamine 2202, denoted p.Gln2202del. The c.6605_6607delAGC variant is not observed in large population cohorts (Lek et al., 2016). Published functional studies show that the c.6605_6607delAGC variant may disrupt normal protein function (Hamdan et al., 2012). We interpret c.6605_6607delAGC as a pathogenic variant.
OMIM RCV000029155 SCV000051800 pathogenic Early infantile epileptic encephalopathy 5 2012-07-01 no assertion criteria provided literature only

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