ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1012G>A (p.Val338Met)

gnomAD frequency: 0.00015  dbSNP: rs140672142
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688402 SCV000816012 likely benign Intellectual disability, autosomal dominant 8 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317916 SCV000851410 uncertain significance Inborn genetic diseases 2016-12-28 criteria provided, single submitter clinical testing The p.V338M variant (also known as c.1012G>A), located in coding exon 7 of the GRIN1 gene, results from a G to A substitution at nucleotide position 1012. The valine at codon 338 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well 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 alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001508287 SCV001714341 uncertain significance not provided 2019-10-28 criteria provided, single submitter clinical testing
GeneDx RCV001508287 SCV001814176 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing

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