Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000792535 | SCV000931838 | pathogenic | Hereditary breast ovarian cancer syndrome | 2018-09-18 | criteria provided, single submitter | clinical testing | This sequence change is an SVA-mediated insertion in exon 10 of the BRCA1 mRNA (c.3108_3109insSVA), causing a frameshift at codon 1037 (p.Lys1037fs). The exact size and sequence of the insertion cannot be determined by the current assay. However, the insertion is expected to result in an absent or disrupted protein product. Retrotransposon insertions including LINE1 (L1), Alu, and SVA (SINE-VNTR-Alu) have been reported to be disease-causing through disruption of either a coding region or splice site (PMID: 19763152, 20307669, 22406018). Although this variant has not been reported in the literature, loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. |