ClinVar Miner

Submissions for variant NM_001083619.3(GRIA2):c.1916C>G (p.Ala639Gly)

dbSNP: rs2530775821
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV003335900 SCV004046174 likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities criteria provided, single submitter clinical testing A different amino acid change at the same residue (p.Ala639Ser) has been previously reported in two patients with intellectual disability and neurodevelopmental abnormalities (PMID: 31300657). The GRIA2 gene is constrained against variation (Z-score= 4.56 and pLI = 1), and missense variants are a common mechanism of disease (HGMD, ClinVar database; PMID: 31300657). The c.1916C>G (p.Ala639Gly) variant is absent from the gnomAD population database and thus is presumed to be rare. The c.1916C>G (p.Ala639Gly) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a discordant effect on protein function. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.1916C>G (p.Ala639Gly) variant is classified as Likely Pathogenic.

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