ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu)

dbSNP: rs1328780843
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001004900 SCV001164397 uncertain significance Intellectual disability, autosomal dominant 8 2018-12-03 criteria provided, single submitter research The heterozygous p.Pro681Leu variant in GRIN1 was identified by our study in one individual with mental retardation. This variant was absent from large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. The GRIN1 gene has a low rate of benign missense variation, raising the possibility that a missense variant would not be tolerated in this gene. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PP2 (Richards 2015).
Ambry Genetics RCV001265786 SCV001443956 likely pathogenic Inborn genetic diseases 2018-06-21 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001267916 SCV001446425 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001004900 SCV002194180 uncertain significance Intellectual disability, autosomal dominant 8 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 660 of the GRIN1 protein (p.Pro660Leu). 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: 813929). 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) performed at Invitae indicates that this missense variant is expected to disrupt 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.
Mendelics RCV002249621 SCV002517155 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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