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
Labcorp Genetics (formerly Invitae), Labcorp RCV000688402 SCV000816012 likely benign Intellectual disability, autosomal dominant 8 2024-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317916 SCV000851410 uncertain significance Inborn genetic diseases 2025-01-21 criteria provided, single submitter clinical testing The c.1012G>A (p.V338M) alteration is located in exon 7 (coding exon 7) of the GRIN1 gene. This alteration results from a G to A substitution at nucleotide position 1012, causing the valine (V) at amino acid position 338 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, 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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