ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1340C>T (p.Pro447Leu)

dbSNP: rs587780348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117167 SCV000151331 uncertain significance not provided 2014-03-31 criteria provided, single submitter clinical testing
Invitae RCV003642871 SCV004448655 uncertain significance Intellectual disability, autosomal dominant 8 2023-03-19 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 129178). This variant has not been reported in the literature in individuals affected with GRIN1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 447 of the GRIN1 protein (p.Pro447Leu).

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