ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1798_1805del (p.Ala600fs)

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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 RCV003018840 SCV003312072 pathogenic Intellectual disability, autosomal dominant 8 2023-07-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2097493). This sequence change creates a premature translational stop signal (p.Ala600Profs*197) 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. For these reasons, this variant has been classified as Pathogenic.

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