ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1910C>T (p.Ala637Val)

dbSNP: rs1554770221
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522670 SCV000621330 likely pathogenic not provided 2017-10-03 criteria provided, single submitter clinical testing The A637V variant in the GRIN1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A637V variant is not observed in large population cohorts (Lek et al., 2016). The A637V variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A637V as a likely pathogenic variant.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196588 SCV001367196 likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 2018-11-14 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PP5.
PreventionGenetics, part of Exact Sciences RCV004537882 SCV004117149 uncertain significance GRIN1-related disorder 2023-02-10 criteria provided, single submitter clinical testing The GRIN1 c.1910C>T variant is predicted to result in the amino acid substitution p.Ala637Val. To our knowledge, this variant has not been reported in the literature or public population databases (, 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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