ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3206C>T (p.Thr1069Met)

dbSNP: rs777249842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805163 SCV000945110 likely benign Landau-Kleffner syndrome 2023-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537196 SCV003581139 uncertain significance Inborn genetic diseases 2021-09-15 criteria provided, single submitter clinical testing The c.3206C>T (p.T1069M) 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 3206, causing the threonine (T) at amino acid position 1069 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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