ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4324C>G (p.Pro1442Ala)

dbSNP: rs59975221
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839094 SCV002098998 uncertain significance Landau-Kleffner syndrome 2021-02-24 criteria provided, single submitter clinical testing The inherited c.4324C>G, p.Pro1442Ala missense variant identified in GRIN2A has not been reported in the literature. This variant has one heterozygote in the gnomAD v3.1database, indicating this is a rare allele. Iin silico analysis predicts conflicting effect of pathogenicity [PMID:27268795] and the position is strongly conserved (GERP++ = 5.79). Based on the available evidence, the missense variant c.4324C>G, p.Pro1442Ala in the GRIN2A gene is classified as a Variant of Uncertain Significance.

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