ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3432C>A (p.Asn1144Lys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002770468 SCV003021704 likely benign Landau-Kleffner syndrome 2022-06-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002800107 SCV003552575 uncertain significance Inborn genetic diseases 2021-01-27 criteria provided, single submitter clinical testing The c.3432C>A (p.N1144K) 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 3432, causing the asparagine (N) at amino acid position 1144 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003443080 SCV004170279 uncertain significance not provided 2023-05-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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