ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4540G>A (p.Ala1514Thr)

gnomAD frequency: 0.00005  dbSNP: rs145551982
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423208 SCV000518945 benign not specified 2016-11-16 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 RCV000868359 SCV001009677 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808805 SCV002056678 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902507 SCV004720863 likely benign SPTAN1-related condition 2019-06-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252828 SCV001163971 uncertain significance Microcephaly no assertion criteria provided research

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