Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000468508 | SCV000544356 | likely benign | Tuberous sclerosis 2 | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000572428 | SCV000675680 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-07-13 | criteria provided, single submitter | clinical testing | The p.A1719T variant (also known as c.5155G>A), located in coding exon 39 of the TSC2 gene, results from a G to A substitution at nucleotide position 5155. The alanine at codon 1719 is replaced by threonine, an amino acid with similar properties. This alteration was identified in a cohort of individuals undergoing exome analysis for sporadic autism spectrum disorders in both the affected child and an unaffected parent (O'Roak BJ et al. Nat. Genet., 2011 Jun;43:585-9). 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. |
Genome- |
RCV000468508 | SCV002040255 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003162430 | SCV003915101 | uncertain significance | not provided | 2023-04-10 | 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; This variant is associated with the following publications: (PMID: 21572417, 21819393, 29617669) |
Tuberous sclerosis database |
RCV000055435 | SCV000083656 | not provided | Autism spectrum disorder | no assertion provided | curation |