ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.879_880insCTCGAT (p.His293_Glu294insLeuAsp)

dbSNP: rs1554768765
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598843 SCV000710225 uncertain significance not provided 2018-07-30 criteria provided, single submitter clinical testing The c.879_880insCTCGAT variant in the GRIN1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.879_880insCTCGAT variant causes an in-frame insertion of two amino acids, Leucine and Aspartic Acid, denoted p.His293_Glu294insLeuAsp. The c.879_880insCTCGAT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.879_880insCTCGAT as a variant of uncertain significance.

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