ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.529C>T (p.Gln177Ter)

dbSNP: rs2131217643
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002006038 SCV002270894 pathogenic Intellectual disability, autosomal dominant 8 2024-05-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln177*) 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). 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: 1484756). For these reasons, this variant has been classified as Pathogenic.

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