Submissions for variant NM_001130438.3(SPTAN1):c.7154C>T (p.Pro2385Leu)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002620132	SCV003507441	uncertain significance	Early infantile epileptic encephalopathy with suppression bursts	2022-03-05	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals affected with SPTAN1-related conditions. This variant is present in population databases (rs755081860, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2385 of the SPTAN1 protein (p.Pro2385Leu).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003989807	SCV004806974	likely benign	Developmental and epileptic encephalopathy, 5	2024-03-26	criteria provided, single submitter	clinical testing