Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000600918 | SCV000732229 | likely benign | not specified | 2017-03-16 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV002531692 | SCV003469632 | likely benign | Intellectual disability, autosomal dominant 8 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000600918 | SCV004223601 | likely benign | not specified | 2023-11-09 | criteria provided, single submitter | clinical testing | Variant summary: GRIN1 c.570+16G>A alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.6e-05 in 1575352 control chromosomes (i.e., 25 heterozygotes; gnomAD v4.0.0). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance, although are not suggestive of a variant associated with highly penetrant autosomal dominant disease. To our knowledge, no occurrence of c.570+16G>A in individuals affected with Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have reported clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign. |