Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590538 | SCV000698986 | uncertain significance | not provided | 2016-05-03 | criteria provided, single submitter | clinical testing | Variant summary: The BRCA1 c.290C>T variant affects a conserved nucleotide, resulting in an amino acid change from Thr to Ile. 4/5 in-silico tools predict this variant to be damaging. This variant was not found in 121310 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available. |
Invitae | RCV001317837 | SCV001508514 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-07-06 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BRCA1 function (PMID: 30209399, 32546644). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) did not meet the statistical confidence thresholds required to predict the impact of this variant on BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 133721). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 97 of the BRCA1 protein (p.Thr97Ile). |
ITMI | RCV000120266 | SCV000084418 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Brotman Baty Institute, |
RCV001072776 | SCV001238221 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |