ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3338C>T (p.Pro1113Leu)

gnomAD frequency: 0.00002  dbSNP: rs766946947
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065377 SCV001230333 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030581 SCV004877937 uncertain significance Inborn genetic diseases 2024-02-21 criteria provided, single submitter clinical testing The c.3338C>T (p.P1113L) alteration is located in exon 13 (coding exon 12) of the GRIN2B gene. This alteration results from a C to T substitution at nucleotide position 3338, causing the proline (P) at amino acid position 1113 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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