Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000478118 | SCV000573304 | pathogenic | not provided | 2022-02-01 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30182498) |
| Ambry Genetics | RCV002323840 | SCV002606031 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-03-29 | criteria provided, single submitter | clinical testing | The p.Q110* pathogenic mutation (also known as c.328C>T), located in coding exon 3 of the TSC2 gene, results from a C to T substitution at nucleotide position 328. This changes the amino acid from a glutamine to a stop codon within coding exon 3. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV003338609 | SCV004047642 | pathogenic | Tuberous sclerosis 2 | criteria provided, single submitter | clinical testing | The stop gained variant c.328C>T(p.Gln110Ter) has been reported in literature (Miao P et.al.,2018). This variant has been reported to the ClinVar database as Pathogenic. The c.328C>T variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The nucleotide change c.328C>T in TSC2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic. |