ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.794C>T (p.Thr265Met)

dbSNP: rs747214620
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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 RCV000700262 SCV000829010 likely benign Landau-Kleffner syndrome 2023-11-27 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000700262 SCV005438708 uncertain significance Landau-Kleffner syndrome criteria provided, single submitter clinical testing The observed missense variant c.794C>Tp.Thr265Met in GRIN2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Thr265Met variant is reported with 0.0004% allele frequency in gnomAD Exomes. This variant has been reported to the ClinVar database as Uncertain Significance. However, no details are available for independent assessment. The amino acid Thr at position 265 is changed to a Met changing protein sequence and it might alter its composition and physico-chemical properties. Computational evidence Polyphen-probably damaging, SIFT- Tolerated and Mutation Taster-disease causing predicts conflicting evidence on protein structure and function for this variant. The reference amino acid p.Thr265Met in GRIN2A is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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