Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000415840 | SCV000493201 | uncertain significance | not provided | 2016-08-01 | criteria provided, single submitter | clinical testing | |
Claritas Genomics | RCV000449511 | SCV000537842 | uncertain significance | Global developmental delay | 2017-02-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001238256 | SCV001411056 | likely benign | Intellectual disability, autosomal dominant 5 | 2023-06-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000415840 | SCV001995523 | uncertain significance | not provided | 2023-10-24 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
New York Genome Center | RCV001238256 | SCV002099419 | uncertain significance | Intellectual disability, autosomal dominant 5 | 2021-02-26 | criteria provided, single submitter | clinical testing | The de novo heterozygous missense c.1285C>T (p.Arg429Trp) variant identified in the SYNGAP1 gene of this individual has not been reported in affected individuals in the literature. It has been reported in the ClinVar database as a variant of uncertain significance (2) and likely benign (1) [Variation ID:374457]. The variant has 0.00001971 allele frequency in the gnomAD(v3) database (3 out of 152,206 heterozygous alleles, no homozygotes) suggesting it is not a common benign allele in the populations represented in that database. The affected residue is not well conserved. In silico tools provide conflicting predictions about potential pathogenicity of this variant [CADD score = 25.9, REVEL score =0.282]. Functional studies to evaluate the functional consequences of this variant have not been reported. Given the lack of compelling evidence about its pathogenicity, the de novo heterozygous missense c.1285C>T (p.Arg429Trp) variant identified in the SYNGAP1 gene is reported here as a variant of uncertain significance. |