ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.467G>A (p.Arg156His)

gnomAD frequency: 0.00005  dbSNP: rs762490192
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550660 SCV000651703 likely benign Intellectual disability, autosomal dominant 8 2024-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316577 SCV000850409 uncertain significance Inborn genetic diseases 2017-05-15 criteria provided, single submitter clinical testing The p.R156H variant (also known as c.467G>A), located in coding exon 3 of the GRIN1 gene, results from a G to A substitution at nucleotide position 467. The arginine at codon 156 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001561619 SCV001784250 likely benign not provided 2018-08-31 criteria provided, single submitter clinical testing
New York Genome Center RCV000550660 SCV002506673 uncertain significance Intellectual disability, autosomal dominant 8 2021-05-14 criteria provided, single submitter clinical testing

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