ClinVar Miner

Submissions for variant NM_001083619.3(GRIA2):c.1937C>A (p.Thr646Asn)

dbSNP: rs2126951773
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV001374383 SCV001571213 likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities 2021-04-01 criteria provided, single submitter curation This variant is interpreted as a likely pathogenic for Neurodevelopmental disorder with language impairment and behavioral abnormalities, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); De novo (paternity and maternity confirmed) (PS2 downgraded to moderate); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease (PP2); Well-established functional studies show a deleterious effect (PS3 downgraded to supporting)

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