ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1331C>T (p.Pro444Leu) (rs200225692)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255622 SCV000321755 uncertain significance not provided 2016-05-05 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the GRIN1 gene. The P444L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P444L variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The P444L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Ambry Genetics RCV000720783 SCV000851665 uncertain significance History of neurodevelopmental disorder 2018-06-12 criteria provided, single submitter clinical testing The p.P444L variant (also known as c.1331C>T), located in coding exon 9 of the GRIN1 gene, results from a C to T substitution at nucleotide position 1331. The proline at codon 444 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV001079792 SCV001129533 likely benign Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 2020-11-03 criteria provided, single submitter clinical testing

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