Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000657389 | SCV000779122 | pathogenic | not provided | 2017-09-18 | criteria provided, single submitter | clinical testing | This duplication of one nucleotide in BRCA1 is denoted c.1194dupA at the cDNA level and p.His399ThrfsX2 (H399TfsX2) at the protein level. The normal sequence, with the base that is duplicated in brackets, is ACTC[dupA]CATG. The duplication causes a frameshift which changes a Histidine to a Threonine at codon 399, and creates a premature stop codon at position 2 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic. |
| Labcorp Genetics |
RCV001855352 | SCV002193803 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-04-11 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 545825). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.His399Thrfs*2) 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). |
| Baylor Genetics | RCV003459558 | SCV004217001 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2022-01-21 | criteria provided, single submitter | clinical testing |