ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.2414del (p.Pro805fs)

dbSNP: rs766786160
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034408 SCV001197754 likely benign Intellectual disability, autosomal dominant 8 2019-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454261 SCV002736171 pathogenic Inborn genetic diseases 2018-05-25 criteria provided, single submitter clinical testing The c.2414delC pathogenic mutation, located in coding exon 17 of the GRIN1 gene, results from a deletion of one nucleotide at nucleotide position 2414, causing a translational frameshift with a predicted alternate stop codon (p.P805Lfs*16). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation

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