ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2486dup (p.Met829fs) (rs1591609065)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008593 SCV001168366 likely pathogenic not provided 2019-02-15 criteria provided, single submitter clinical testing The c.2486dupT variant in the GRIN2B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2486dupT variant causes a frameshift starting with codon Methionine 829, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 82 of the new reading frame, denoted p.Met829IlefsX82. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 656 amino acids are lost and replaced with 81 incorrect amino acids. The c.2486dupT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2486dupT as a likely pathogenic variant.

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