ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.916A>T (p.Met306Leu)

dbSNP: rs778386295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812539 SCV000952856 likely benign Landau-Kleffner syndrome 2024-05-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000992091 SCV001144087 uncertain significance not provided 2020-01-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003396423 SCV004104086 uncertain significance GRIN2A-related disorder 2023-06-05 criteria provided, single submitter clinical testing The GRIN2A c.916A>T variant is predicted to result in the amino acid substitution p.Met306Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-10031907-T-A). 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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