ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1])

dbSNP: rs1555111511
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598845 SCV000710537 pathogenic not provided 2020-09-25 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 2 amino acids with an unclear effect on protein function; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV000680001 SCV000807439 uncertain significance Intellectual disability, autosomal dominant 6 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 7-year-old female with intellectual disability, no speech, hypotonia, seizure-like episodes, microcephaly, failure to thrive, loose joints, eye abnormalities
Mendelics RCV000680001 SCV001138652 likely pathogenic Intellectual disability, autosomal dominant 6 2019-05-28 criteria provided, single submitter clinical testing

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