ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=)

gnomAD frequency: 0.00002  dbSNP: rs746824729
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429859 SCV000529935 likely benign not specified 2016-07-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000636549 SCV000757988 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-07 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768325 SCV000898995 uncertain significance Developmental and epileptic encephalopathy, 5 2021-03-30 criteria provided, single submitter clinical testing SPTAN1 NM_001130438.2 exon 38 p.Gln1595= (c.4785G>A): This variant has not been reported in the literature and is present in 0.05% (11/19946) of East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/9-131374004-G-A). This variant is present in ClinVar (Variation ID:387800). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Genome-Nilou Lab RCV000768325 SCV002056590 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339063 SCV002640089 likely benign Inborn genetic diseases 2017-07-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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