ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3926G>T (p.Arg1309Leu)

dbSNP: rs1900699130
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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 RCV001226778 SCV001399104 likely benign Landau-Kleffner syndrome 2021-08-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003398974 SCV004103351 uncertain significance GRIN2A-related disorder 2022-09-20 criteria provided, single submitter clinical testing The GRIN2A c.3926G>T variant is predicted to result in the amino acid substitution p.Arg1309Leu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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