Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000419427 | SCV000531777 | likely benign | not specified | 2017-10-25 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Labcorp Genetics |
RCV003539888 | SCV000653187 | likely benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000567158 | SCV000671519 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-05 | 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. |
| Center for Genomics, |
RCV003224279 | SCV003920343 | uncertain significance | Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | 2022-10-13 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF: 0.003% [3/113522]; https://gnomad.broadinstitute.org/variant/12-133235937-C-A?dataset=gnomad_r2_1), and in ClinVar (Variation ID: 389303). Of note, this is a silent variant and does not change the amino acid, reducing the probability that this variant is disease-causing. However, splice prediction tools suggest that this variant may impact splicing by creating a new splice site 2 nucleotide positions upstream of this variant. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |