ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4437del (p.Ser1479fs)

dbSNP: rs1948563428
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062340 SCV001227135 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2022-03-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GRIN2B-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 856799). This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the GRIN2B gene (p.Ser1479Argfs*8). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acid(s) of the GRIN2B protein and extend the protein by 1 additional amino acid residues.

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