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

dbSNP: rs1554770221

Total submissions: 3

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 (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.