Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000661051 | SCV000783297 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-12-15 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000506940 | SCV000600303 | likely pathogenic | not provided | 2016-10-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002438229 | SCV002752308 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-12-30 | criteria provided, single submitter | clinical testing | The p.K937* pathogenic mutation (also known as c.2809A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 2809. This changes the amino acid from a lysine to a stop codon within coding exon 9. 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 | RCV002527338 | SCV003349115 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-05-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys937*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 438921). For these reasons, this variant has been classified as Pathogenic. |