ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.3006_3009dup (p.Tyr1004fs) (rs1057518520)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413196 SCV000492250 likely pathogenic not provided 2016-12-09 criteria provided, single submitter clinical testing A novel c.3006_3009dupGCTC variant that is likely pathogenic has been identified in the GRIN2B gene. The c.3006_3009dupGCTC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.3006_3009dupGCTC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.3006_3009dupGCTC variant in the GRIN2B gene causes a frameshift starting with codon Tyrosine 1004, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Tyr1004AlafsX5. This variant is predicted to cause protein truncation as the last 481 amino acids of the GRIN2B protein are changed to 4 incorrect amino acids. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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