ClinVar Miner

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

dbSNP: 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 2020-07-10 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; Published functional studies suggest this variant may disrupt normal protein function (Hamdan et al., 2012); In silico analysis supports a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22258530, 29337302, 25631096, 33163565)
OMIM RCV000029155 SCV000051800 pathogenic Developmental and epileptic encephalopathy, 5 2012-07-01 no assertion criteria provided literature only

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