ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4220C>T (p.Ser1407Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002935108 SCV003658062 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.4220C>T (p.S1407L) 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 4220, causing the serine (S) at amino acid position 1407 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003581886 SCV004285389 likely benign Landau-Kleffner syndrome 2023-11-27 criteria provided, single submitter clinical testing

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