Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588683 | SCV000695948 | benign | not provided | 2017-03-27 | criteria provided, single submitter | clinical testing | Variant summary: The c.1234G>A (p.Val412Ile) in TBX5 gene is a missense change that involves a conserved nucleotide and 2/4 in silico tools predict deleterious outcome. The variant is located outside of any known functional domain and no functional studies confirming deleterious effect of this change have been reported at the time of evaluation. The variant is present in the control population dataset of ExAC at a frequency of 0.0009702 (117/ 120590 chrs tested), predominantly in individuals of African descent (0.01025; 105/ 120590 chrs tested, including 2 homozygotes. The observed frequency exceed the maximum expected allele frequency for a pathogenic variant of 0.0000013. The variant is present in a control population dataset of gnomAD at a frequency of 0.0009577 (265/276692 chrs), mainly in individuals of African origin: 0.009912 (238/24012 chrs, including 2 homozygotes). This data suggest that the variant of interest may be an ethnic-specific functional polymorphism. The variant has not, to our knowledge, been reported in affected individuals via published reports or cited by reputable databases/clinical laboratories. Taking together, the variant was classified as Benign. |
| Gene |
RCV000615903 | SCV000715441 | benign | not specified | 2017-06-01 | 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. |
| Ambry Genetics | RCV000619805 | SCV000735404 | likely benign | Cardiovascular phenotype | 2018-12-19 | 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. |
| Invitae | RCV001085662 | SCV001003110 | benign | Aortic valve disease 2 | 2024-01-22 | criteria provided, single submitter | clinical testing |