ClinVar Miner

Submissions for variant NM_001083619.3(GRIA2):c.506del (p.Ala169fs)

dbSNP: rs2126885680
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272682 SCV002556688 pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities 2022-01-13 criteria provided, single submitter clinical testing The GRIA2 c.506del variant is classified as PATHOGENIC (PM2, PS2, PVS1) This GRIA2 c.506del variant is located in exon 4/16 and is predicted to cause a shift in the reading frame at codon 169 (PVS1). This variant is de novo in this individual (PS2). This variant has not been reported in dbSNP and is absent from population databases (PM2). It has not been reported in the ClinVar or HGMD disease databases.

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