ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)

dbSNP: rs1859859572
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268114 SCV001446771 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001780223 SCV002026326 likely pathogenic Developmental and epileptic encephalopathy, 5 2017-09-01 criteria provided, single submitter research
Genome-Nilou Lab RCV001780223 SCV002056735 likely pathogenic Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV001880161 SCV002228779 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). ClinVar contains an entry for this variant (Variation ID: 986935). This missense change has been observed in individual(s) with clinical features of developmental and epileptic encephalopathy (PMID: 29050398; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 2271 of the SPTAN1 protein (p.Glu2271Lys).
OMIM RCV001780223 SCV004045979 pathogenic Developmental and epileptic encephalopathy, 5 2023-10-18 no assertion criteria provided literature only

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