ClinVar Miner

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

dbSNP: rs1064795712
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483066 SCV000571777 likely pathogenic not provided 2022-12-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV000483066 SCV000575610 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
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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