ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1045G>T (p.Ala349Ser)

gnomAD frequency: 0.00003  dbSNP: rs148008303
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649661 SCV000771490 likely benign Intellectual disability, autosomal dominant 8 2023-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000999295 SCV001155860 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332979 SCV001525452 uncertain significance Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 2020-03-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000999295 SCV001781883 likely benign not provided 2020-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397295 SCV002708749 uncertain significance Inborn genetic diseases 2020-08-25 criteria provided, single submitter clinical testing The p.A349S variant (also known as c.1045G>T), located in coding exon 7 of the GRIN1 gene, results from a G to T substitution at nucleotide position 1045. The alanine at codon 349 is replaced by serine, an amino acid with similar properties. This variant was identified in a schizophrenia cohort; however, clinical details were limited (Tarabeux J et al. Transl Psychiatry, 2011 Nov;1:e55). 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.

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