ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu) (rs1328780843)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV001004900 SCV001164397 uncertain significance Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 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

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