ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3919C>T (p.Pro1307Ser)

gnomAD frequency: 0.00004  dbSNP: rs148827608
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827641 SCV000969299 likely benign not provided 2018-05-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002372373 SCV002624834 uncertain significance Inborn genetic diseases 2018-09-13 criteria provided, single submitter clinical testing The p.P1307S variant (also known as c.3919C>T), located in coding exon 12 of the GRIN2A gene, results from a C to T substitution at nucleotide position 3919. The proline at codon 1307 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002538265 SCV003242335 likely benign Landau-Kleffner syndrome 2024-01-25 criteria provided, single submitter clinical testing

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