ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4245C>A (p.Asp1415Glu)

gnomAD frequency: 0.00001  dbSNP: rs777328885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639591 SCV000761168 likely benign Landau-Kleffner syndrome 2022-03-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002529981 SCV003543047 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.4245C>A (p.D1415E) alteration is located in exon 14 (coding exon 12) of the GRIN2A gene. This alteration results from a C to A substitution at nucleotide position 4245, causing the aspartic acid (D) at amino acid position 1415 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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