Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV000772913 | SCV000906295 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-05-21 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000793838 | SCV000933214 | uncertain significance | Aortic aneurysm, familial thoracic 4 | 2022-06-27 | criteria provided, single submitter | clinical testing | This sequence change affects codon 628 of the MYH11 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MYH11 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs200158182, gnomAD 0.01%). This variant has been observed in individual(s) with clinical features of MYH11-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 628444). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Illumina Laboratory Services, |
RCV000793838 | SCV001280252 | uncertain significance | Aortic aneurysm, familial thoracic 4 | 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. |
| Gene |
RCV001672954 | SCV001882519 | likely benign | not provided | 2018-08-07 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000772913 | SCV002724117 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-11-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |