Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000182501 | SCV000234847 | likely benign | not provided | 2021-02-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000234324 | SCV000285782 | likely benign | Aortic aneurysm, familial thoracic 4 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001178103 | SCV000318527 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-02-17 | 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. |
Genome Diagnostics Laboratory, |
RCV000234324 | SCV000744022 | likely benign | Aortic aneurysm, familial thoracic 4 | 2016-05-13 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000182501 | SCV000885769 | uncertain significance | not provided | 2018-06-30 | criteria provided, single submitter | clinical testing | The MYH11 c.2893G>T; p.Ala965Ser variant (rs113696032), to our knowledge, has not been described in the medical literature but is reported in ClinVar (Variation ID: 201058) and observed in the general population at an overall frequency of 0.035% (96/277250 alleles) in the Genome Aggregation Database. The alanine at codon 965 is moderately conserved, but computational algorithms (PolyPhen-2: benign, SIFT: damaging) predict conflicting effects of this variant on protein structure and/or function. Due to limited information regarding this variant, its clinical significance cannot be determined with certainty. Pathogenic MYH11 variants are inherited in an autosomal dominant manner, and are associated with familial thoracic aortic aneurysm 4 (MIM: 132900). |
Illumina Laboratory Services, |
RCV000234324 | SCV001276338 | 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. |
Color Diagnostics, |
RCV001178103 | SCV001342458 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-10-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000182501 | SCV001371352 | uncertain significance | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001178103 | SCV002042929 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-08-12 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000234324 | SCV002495852 | uncertain significance | Aortic aneurysm, familial thoracic 4 | 2021-12-15 | criteria provided, single submitter | clinical testing | MYH11 NM_002474.3 exon 23 p.Ala965Ser (c.2893G>T): This variant has not been reported in the literature but is present in 0.06% (41/68042) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-15740155-C-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:201058). Evolutionary conservation for this variant is unclear; computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323431 | SCV004028857 | likely benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000234324 | SCV000745968 | likely benign | Aortic aneurysm, familial thoracic 4 | 2017-06-06 | no assertion criteria provided | clinical testing |