Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001016931 | SCV001177940 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-08-23 | criteria provided, single submitter | clinical testing | The p.I97M variant (also known as c.291A>G), located in coding exon 3 of the TSC1 gene, results from an A to G substitution at nucleotide position 291. The isoleucine at codon 97 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well 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. |
Center for Genomic Medicine, |
RCV003988858 | SCV004805447 | uncertain significance | Tuberous sclerosis 1 | 2024-03-25 | criteria provided, single submitter | research | |
3billion | RCV004726784 | SCV005329095 | likely benign | Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II | 2024-09-20 | criteria provided, single submitter | clinical testing | The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question. |