ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn)

gnomAD frequency: 0.00014  dbSNP: rs199720383
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001311026 SCV000243078 likely benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Invitae RCV000808941 SCV000949074 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311026 SCV001501046 likely benign not provided 2022-01-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808483 SCV002056647 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444768 SCV002733053 likely benign Inborn genetic diseases 2019-12-16 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.
Fulgent Genetics, Fulgent Genetics RCV001808483 SCV002809653 benign Developmental and epileptic encephalopathy, 5 2022-04-15 criteria provided, single submitter clinical testing

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