ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)

gnomAD frequency: 0.00016  dbSNP: rs147522594
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000189158 SCV000152616 likely benign not specified 2016-05-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000724214 SCV000228378 uncertain significance not provided 2014-10-29 criteria provided, single submitter clinical testing
GeneDx RCV000724214 SCV000242790 benign not provided 2018-11-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26645390, 25818041, 9154907)
Illumina Laboratory Services, Illumina RCV000340147 SCV000417451 likely benign Seizures, benign familial infantile, 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085807 SCV000562135 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2025-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313918 SCV000848298 likely benign Inborn genetic diseases 2016-11-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Mendelics RCV000340147 SCV001136003 benign Seizures, benign familial infantile, 3 2023-08-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724214 SCV004011225 benign not provided 2025-01-01 criteria provided, single submitter clinical testing SCN2A: PP3, BS1, BS2
GenomeConnect, ClinGen RCV001085807 SCV001423343 not provided Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 05-24-2016 by Lab or GTR ID 506900. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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