ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.237C>A (p.Cys79Ter)

dbSNP: rs200529044
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578586 SCV000680939 uncertain significance not provided 2017-03-24 criteria provided, single submitter clinical testing The C79X variant in the GRIN1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The C79X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Based on the information available, we interpret C79X as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860009 SCV002201573 pathogenic Intellectual disability, autosomal dominant 8 2023-08-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 488975). This variant has not been reported in the literature in individuals affected with GRIN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys79*) in the GRIN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GRIN1 are known to be pathogenic (PMID: 27164704, 35393335).

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