ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1340C>A (p.Pro447His)

gnomAD frequency: 0.00014  dbSNP: rs587780348
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466369 SCV000541370 benign Intellectual disability, autosomal dominant 8 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001563171 SCV001786062 likely benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821222 SCV002069543 uncertain significance not specified 2020-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298461 SCV003976147 uncertain significance Inborn genetic diseases 2023-04-26 criteria provided, single submitter clinical testing The c.1340C>A (p.P447H) alteration is located in exon 10 (coding exon 10) of the GRIN1 gene. This alteration results from a C to A substitution at nucleotide position 1340, causing the proline (P) at amino acid position 447 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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