ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.2589del (p.Ile864fs) (rs796052578)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187708 SCV000241305 likely pathogenic not provided 2016-03-09 criteria provided, single submitter clinical testing The c.2589delC variant in the GRIN2B gene has not been reported previously, to our knowledge. This variant causes a frameshift starting with codon Isoleucine 864, changes this amino acid to a Serine residue and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Ile864SerfsX20 (k864SfsX20). This mutation is predicted to cause loss of normal protein function through protein truncation as the last 621 amino acids are replaced with 19 incorrect amino acids. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Institute of Human Genetics, University of Leipzig Medical Center RCV001172359 SCV001335413 uncertain significance Mental retardation, autosomal dominant 6 2017-04-04 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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