ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.5301A>G (p.Glu1767=)

gnomAD frequency: 0.00021  dbSNP: rs200641770
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430368 SCV000531426 likely benign not specified 2017-10-19 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.
Athena Diagnostics RCV000713518 SCV000844139 likely benign not provided 2018-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086232 SCV001007102 likely benign Early infantile epileptic encephalopathy with suppression bursts 2025-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551488 SCV004773088 likely benign SPTAN1-related disorder 2020-11-12 no assertion criteria provided 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).

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