ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1249G>T (p.Val417Phe)

dbSNP: rs749504561
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318321 SCV000851699 uncertain significance Inborn genetic diseases 2017-05-24 criteria provided, single submitter clinical testing The p.V417F variant (also known as c.1249G>T), located in coding exon 4 of the GRIN2A gene, results from a G to T substitution at nucleotide position 1249. The valine at codon 417 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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