ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=)

gnomAD frequency: 0.09434  dbSNP: rs75579703
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312507 SCV000846359 benign Inborn genetic diseases 2016-03-02 criteria provided, single submitter clinical testing This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000860451 SCV001000510 benign Intellectual disability, autosomal dominant 5 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001689659 SCV001915098 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000860451 SCV002062155 benign Intellectual disability, autosomal dominant 5 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000118566 SCV005091814 benign not specified 2024-07-31 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 20% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 19. Only high quality variants are reported.
Genetic Services Laboratory, University of Chicago RCV000118566 SCV000152972 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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