ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4357G>T (p.Val1453Leu)

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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 RCV003078420 SCV003474546 likely benign Landau-Kleffner syndrome 2022-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004071946 SCV004877935 uncertain significance Inborn genetic diseases 2024-02-21 criteria provided, single submitter clinical testing The c.4357G>T (p.V1453L) alteration is located in exon 14 (coding exon 12) of the GRIN2A gene. This alteration results from a G to T substitution at nucleotide position 4357, causing the valine (V) at amino acid position 1453 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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