ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1974C>G (p.Asp658Glu) (rs1064795712)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000483066 SCV000575610 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000483066 SCV000571777 likely pathogenic not provided 2018-03-13 criteria provided, single submitter clinical testing The D658E variant in the GRIN1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D658E variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D658E variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Aspartic acid are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The D658E variant is a strong candidate for a pathogenic variant.
GenomeConnect, ClinGen RCV000509282 SCV000607003 not provided GRIN1-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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