Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000126967 | SCV000170498 | benign | not specified | 2013-10-14 | 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 | RCV000242448 | SCV000319215 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-03-04 | 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. |
Illumina Laboratory Services, |
RCV000242448 | SCV000395201 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000371604 | SCV000395202 | uncertain significance | Lissencephaly, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000464298 | SCV000556091 | benign | Aortic aneurysm, familial thoracic 4 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001092817 | SCV000604338 | benign | not provided | 2023-10-16 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000464298 | SCV000745472 | likely benign | Aortic aneurysm, familial thoracic 4 | 2017-06-28 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000680549 | SCV000807960 | likely benign | Connective tissue disorder | 2018-06-01 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000242448 | SCV000902158 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-08-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000242448 | SCV000911314 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-03-07 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000126967 | SCV000917828 | benign | not specified | 2018-05-14 | criteria provided, single submitter | clinical testing | Variant summary: MYH11 c.5587C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0013 in 277156 control chromosomes in the gnomAD database, including 1 homozygotes. The observed variant frequency is approximately 1048-fold higher than the estimated maximal expected allele frequency for a pathogenic variant in MYH11 causing Aortopathy phenotype (1.3e-06), strongly suggesting that the variant is benign. The variant, c.5587C>T, has been reported in the literature in one individual affected with Aortopathy (van de Luijtgaarden_2015). This report does not provide unequivocal conclusions about association of the variant with Aortopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Multiple ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as "likely benign/benign." Based on the evidence outlined above, the variant was classified as benign. |
Ce |
RCV001092817 | SCV001249510 | likely benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | MYH11: BP4, BP7 |
Illumina Laboratory Services, |
RCV000464298 | SCV001279561 | uncertain significance | Aortic aneurysm, familial thoracic 4 | 2018-01-12 | 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. |
Genome Diagnostics Laboratory, |
RCV000464298 | SCV000745953 | likely benign | Aortic aneurysm, familial thoracic 4 | 2014-11-19 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001092817 | SCV001926941 | likely benign | not provided | no assertion criteria provided | clinical testing |