ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])

dbSNP: rs587784440
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189555 SCV000243198 pathogenic not provided 2023-06-15 criteria provided, single submitter clinical testing In-frame deletion of 3 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27864847, 34590414)
Neurogenetics Laboratory - MEYER, AOU Meyer RCV000416957 SCV000494543 likely pathogenic Focal epilepsy 2016-11-16 criteria provided, single submitter clinical testing
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420284 SCV001622704 pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PP5_strong;PM1_moderate;PM2_supporting;PM6_moderate;PP3_supporting;BP3_supporting
Institute of Human Genetics, University of Leipzig Medical Center RCV001781558 SCV002026336 likely pathogenic Developmental and epileptic encephalopathy, 5 2017-09-01 criteria provided, single submitter research
Invitae RCV001852513 SCV002267664 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-08-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant, c.6908_6916del, results in the deletion of 3 amino acid(s) of the SPTAN1 protein (p.Asp2303_Leu2305del), but otherwise preserves the integrity of the reading frame. This variant has been observed in individual(s) with clinical features of SPTAN1-related conditions (PMID: 27864847, 34590414; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 207380). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity Omics RCV000189555 SCV004238705 likely pathogenic not provided 2023-04-06 criteria provided, single submitter clinical testing
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University RCV001781558 SCV002576307 pathogenic Developmental and epileptic encephalopathy, 5 no assertion criteria provided provider interpretation
OMIM RCV003335186 SCV004045981 pathogenic Developmental delay with or without epilepsy 2023-10-18 no assertion criteria provided literature only

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