ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2752C>T (p.Pro918Ser)

gnomAD frequency: 0.00001  dbSNP: rs778940856
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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 RCV002318252 SCV000851543 uncertain significance Inborn genetic diseases 2018-02-12 criteria provided, single submitter clinical testing The p.P918S variant (also known as c.2752C>T), located in coding exon 12 of the GRIN2A gene, results from a C to T substitution at nucleotide position 2752. The proline at codon 918 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 variant remains unclear.
Invitae RCV001317233 SCV001507887 likely benign Landau-Kleffner syndrome 2023-11-27 criteria provided, single submitter clinical testing

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