Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000528252 | SCV000440290 | uncertain significance | Aortic aneurysm, familial thoracic 7 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Invitae | RCV000528252 | SCV000650547 | likely benign | Aortic aneurysm, familial thoracic 7 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000528252 | SCV000678226 | uncertain significance | Aortic aneurysm, familial thoracic 7 | 2017-08-01 | criteria provided, single submitter | clinical testing | MYLK NM_053026 exon22 p.Ala1231Thr (c.3691G>A): This variant has not been reported in the literature but is present in 0.1% (58/34412) of Latino chromosomes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs149530842). This variant is present in ClinVar (Variation ID:342880). This variant threonine (Thr) is present in >10 species including mammals, and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Gene |
RCV000615774 | SCV000717505 | likely benign | not specified | 2017-09-27 | 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 | RCV000620056 | SCV000739289 | uncertain significance | Cardiovascular phenotype | 2017-09-06 | criteria provided, single submitter | clinical testing | Insufficient evidence |
Center for Human Genetics, |
RCV000659949 | SCV000781853 | likely benign | Connective tissue disease | 2016-11-01 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170118 | SCV001332657 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-04-11 | criteria provided, single submitter | clinical testing |