ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1385C>T (p.Ala462Val)

dbSNP: rs769825203
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713067 SCV000843634 uncertain significance not provided 2017-11-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764277 SCV000895293 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000713067 SCV001793162 uncertain significance not provided 2020-07-08 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This substitution is predicted to be within the cytoplasmic loop between the first and second homologous domains; This variant is associated with the following publications: (PMID: 30564305)
Labcorp Genetics (formerly Invitae), Labcorp RCV000764277 SCV002198741 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-08-23 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 C0"). ClinVar contains an entry for this variant (Variation ID: 586495). This missense change has been observed in individual(s) with autism spectrum disorder (PMID: 30564305). This variant is present in population databases (rs769825203, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 462 of the SCN2A protein (p.Ala462Val).

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