Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164317 | SCV000214948 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-04-17 | criteria provided, single submitter | clinical testing | Insufficient or conflicting evidence |
Invitae | RCV000234088 | SCV000291008 | uncertain significance | Familial cancer of breast; Fanconi anemia, complementation group J | 2019-10-30 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with glycine at codon 753 of the BRIP1 protein (p.Asp753Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs745578572, ExAC 0.03%) but has not been reported in the literature in individuals with a BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 184968). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. |
Counsyl | RCV000662914 | SCV000785853 | uncertain significance | Fanconi anemia, complementation group J; Neoplasm of ovary | 2017-12-27 | criteria provided, single submitter | clinical testing | |
Color | RCV000164317 | SCV000912105 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-10-08 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001194773 | SCV001364557 | uncertain significance | not provided | 2019-08-13 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa. |