ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.352G>A (p.Val118Met)

dbSNP: rs1588686286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995776 SCV001150122 likely pathogenic Intellectual disability, autosomal dominant 8 2018-01-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528329 SCV004104476 uncertain significance GRIN1-related disorder 2023-09-11 criteria provided, single submitter clinical testing The GRIN1 c.352G>A variant is predicted to result in the amino acid substitution p.Val118Met. This variant has been reported de novo in an individual with infantile onset generalized dystonia (Table S2, Zech et al. 2020. PubMed ID: 33098801; Table S2, Dzinovic et al. 2022. PubMed ID: 35872528). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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