ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.992C>T (p.Ala331Val)

gnomAD frequency: 0.00001  dbSNP: rs201324316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001033956 SCV001197276 benign Intellectual disability, autosomal dominant 8 2022-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003283870 SCV003960210 uncertain significance Inborn genetic diseases 2023-03-31 criteria provided, single submitter clinical testing The c.992C>T (p.A331V) alteration is located in exon 7 (coding exon 7) of the GRIN1 gene. This alteration results from a C to T substitution at nucleotide position 992, causing the alanine (A) at amino acid position 331 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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