ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val)

dbSNP: rs1554770589
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999297 SCV001155863 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002272383 SCV002556591 likely pathogenic Intellectual disability, autosomal dominant 8 2021-02-02 criteria provided, single submitter clinical testing PS2, PM2, PM1
Baylor Genetics RCV002272383 SCV004041432 likely pathogenic Intellectual disability, autosomal dominant 8 2023-04-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528332 SCV004111423 likely pathogenic GRIN1-related disorder 2023-04-19 criteria provided, single submitter clinical testing The GRIN1 c.2417C>T variant is predicted to result in the amino acid substitution p.Ala806Val. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.

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