Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000563795 | SCV000665072 | likely benign | Hereditary cancer-predisposing syndrome | 2024-01-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Color Diagnostics, |
RCV000563795 | SCV000686067 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000635903 | SCV000757329 | likely benign | Familial cancer of breast | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV003492103 | SCV001140053 | likely benign | Hereditary cancer | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000635903 | SCV002512649 | uncertain significance | Familial cancer of breast | 2021-11-22 | criteria provided, single submitter | clinical testing | ACMG classification criteria: BP4 supporting |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002476221 | SCV002774676 | uncertain significance | not provided | 2021-06-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002476221 | SCV003842547 | uncertain significance | not provided | 2023-03-17 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with breast cancer or Fanconi anemia (George et al., 2021; Guindalini et al., 2022); This variant is associated with the following publications: (PMID: 20871615, 19369211, 35264596, 34585473, 30949167) |
Neuberg Centre For Genomic Medicine, |
RCV003448324 | SCV004176579 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 5 | 2023-02-14 | criteria provided, single submitter | clinical testing | The missense c.560C>A (p.Pro187His) variant in PALB2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Pro187His variant has allele frequency 0.006% is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has been reported to the ClinVar database as Likely benign / Uncertain Significance. The amino acid change p.Pro187His in PALB2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Pro at position 187 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS). |