Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001183200 | SCV001348858 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-03-02 | criteria provided, single submitter | clinical testing | This variant is located in the TP53 protein. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of TP53 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Ambry Genetics | RCV001183200 | SCV003995353 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-05-27 | criteria provided, single submitter | clinical testing | The p.Q331* pathogenic mutation (also known as c.991C>T), located in coding exon 8 of the TP53 gene, results from a C to T substitution at nucleotide position 991. This changes the amino acid from a glutamine to a stop codon within coding exon 8. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |
Invitae | RCV003509657 | SCV004296691 | pathogenic | Li-Fraumeni syndrome | 2023-06-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln331*) in the TP53 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Li–Fraumeni syndrome (PMID: 25318593). ClinVar contains an entry for this variant (Variation ID: 922893). For these reasons, this variant has been classified as Pathogenic. |
Laboratory of Urology, |
RCV003332297 | SCV004040608 | pathogenic | Malignant tumor of urinary bladder | no assertion criteria provided | research |