ClinVar Miner

Submissions for variant NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter)

dbSNP: rs139990565
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178131 SCV000230135 likely pathogenic not provided 2014-08-06 criteria provided, single submitter clinical testing
3billion RCV003152691 SCV003841722 pathogenic Syndromic X-linked intellectual disability 94 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with GRIA3 related disorder (ClinVar ID: VCV000197168). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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