Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000757538 | SCV000885798 | likely benign | not provided | 2017-11-13 | criteria provided, single submitter | clinical testing | The c.3981C>T variant (rs373556266) does not alter the MYLK protein sequence and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site (Alamut software v2.7.1). This variant has not been reported in patients with aortopathy in medical literature or in gene specific variation databases. the c.3981C>T variant is listed in the ExAC Browser with an overall population frequency of 0.006 percent (7 out of 121112 chromosomes) and is listed in the NHLBI GO Exome Sequencing Project with an overall population frequency of 0.02 percent (2 out of 13006 chromosomes). Thus, the c.3981C>T variant is likely to be benign. |
Invitae | RCV001088470 | SCV001007805 | likely benign | Aortic aneurysm, familial thoracic 7 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000757538 | SCV001772426 | likely benign | not provided | 2021-03-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002370010 | SCV002625189 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-08-07 | 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. |
Ce |
RCV000757538 | SCV004155427 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | MYLK: BP4, BP7 |