ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) (rs397518468)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000074389 SCV000953322 likely pathogenic Epilepsy, focal, with speech disorder and with or without mental retardation 2019-03-11 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 531 of the GRIN2A protein (p.Thr531Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with clinical features of GRIN2A-related conditions in families (PMID: 23933818, Invitae). ClinVar contains an entry for this variant (Variation ID: 88730). Experimental studies have shown that this missense change alters NMDA receptor kinetics (PMID: 23933818, 27839871). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000074389 SCV000105999 pathogenic Epilepsy, focal, with speech disorder and with or without mental retardation 2013-09-01 no assertion criteria provided literature only

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