Total submissions: 5
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 | |
Ce |
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]. |
Gene |
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. |