ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3311C>T (p.Thr1104Ile)

gnomAD frequency: 0.00001  dbSNP: rs755577016
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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 RCV001203497 SCV001374665 likely benign Landau-Kleffner syndrome 2024-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561129 SCV003565675 uncertain significance Inborn genetic diseases 2021-01-08 criteria provided, single submitter clinical testing The c.3311C>T (p.T1104I) alteration is located in exon 14 (coding exon 12) of the GRIN2A gene. This alteration results from a C to T substitution at nucleotide position 3311, causing the threonine (T) at amino acid position 1104 to be replaced by an isoleucine (I). The p.T1104I alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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