ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1913C>T (p.Ala638Val)

dbSNP: rs1567329011
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679998 SCV000807436 uncertain significance Landau-Kleffner syndrome 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 6-year-old male with intellectual disability, regression, epilepsy, mixed tone, joint contractures, failure to thrive, structural brain abnormalities, mild dysmorphisms, microcephaly
3billion RCV000679998 SCV003841622 uncertain significance Landau-Kleffner syndrome 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.45; 3Cnet: 0.98). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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