ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.2531G>T (p.Arg844Leu) (rs1564365418)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735322 SCV000854477 likely pathogenic Global developmental delay; Autistic behavior; Expressive language delay; Febrile seizures; Macrocephalus criteria provided, single submitter clinical testing
Invitae RCV001239704 SCV001412597 uncertain significance Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 2019-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 844 of the GRIN1 protein (p.Arg844Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GRIN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 598966). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). This variant disrupts the p.Arg844 amino acid residue in GRIN1. Another variant that disrupts this residue has been determined to be pathogenic (PMID: 27159321). This other variant is also known as p.Arg865Cys in the literature. This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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