ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.583T>C (p.Phe195Leu)

gnomAD frequency: 0.00001  dbSNP: rs1445598953
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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 RCV002180526 SCV002344572 likely benign Landau-Kleffner syndrome 2024-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352797 SCV002647759 uncertain significance Inborn genetic diseases 2018-12-19 criteria provided, single submitter clinical testing The p.F195L variant (also known as c.583T>C), located in coding exon 2 of the GRIN2A gene, results from a T to C substitution at nucleotide position 583. The phenylalanine at codon 195 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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