ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.448G>A (p.Val150Met)

dbSNP: rs1187375556
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226306 SCV001398617 uncertain significance Intellectual disability, autosomal dominant 8 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 150 of the GRIN1 protein (p.Val150Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GRIN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 953936). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GRIN1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV001226306 SCV001525454 likely pathogenic Intellectual disability, autosomal dominant 8 2020-02-28 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV004538474 SCV004104782 uncertain significance GRIN1-related disorder 2023-02-06 criteria provided, single submitter clinical testing The GRIN1 c.448G>A variant is predicted to result in the amino acid substitution p.Val150Met. To our knowledge, this variant has not been reported in the literature or in a large population database (, indicating this variant is rare. In ClinVar this variant is reported with conflicting interpretations of uncertain and likely 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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