Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000641970 | SCV000763622 | likely benign | Tuberous sclerosis 1 | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001025559 | SCV001187767 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-10-23 | criteria provided, single submitter | clinical testing | The p.M224L variant (also known as c.670A>T), located in coding exon 6 of the TSC1 gene, results from an A to T substitution at nucleotide position 670. The methionine at codon 224 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Genome- |
RCV000641970 | SCV002039509 | uncertain significance | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477414 | SCV002793909 | uncertain significance | Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II | 2022-05-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004723021 | SCV005331829 | uncertain significance | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |