ClinVar Miner

Submissions for variant NM_000828.5(GRIA3):c.2408G>A (p.Gly803Glu)

dbSNP: rs1057521729
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427181 SCV000524367 likely pathogenic not provided 2024-08-15 criteria provided, single submitter clinical testing De novo variant with confirmed parentage in a patient with features of GRIA3-related neurodevelopmental disorder referred for genetic testing at GeneDx (PMID: 33057194); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35982159, 33057194)
GenomeConnect, ClinGen RCV000509420 SCV000606955 not provided GRIA3-related disorder no assertion provided phenotyping only 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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