Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000425459 | SCV000516060 | uncertain significance | not provided | 2020-03-06 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Nonsense variant predicted to result in protein truncation or nonsense mediated decay; Not located in the smooth muscle isoform, where the majority of loss-of-function variants associated with autosomal dominant TAAD and autosomal recessive MMIHS have been reported to date (Wang et al., 2010; Stenson et al., 2014); Not observed at a significant frequency in large population cohorts (Lek et al., 2016) |
| Invitae | RCV001065127 | SCV001230069 | uncertain significance | Aortic aneurysm, familial thoracic 7 | 2022-01-21 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 379305). This variant has not been reported in the literature in individuals affected with MYLK-related conditions. This variant is present in population databases (rs768134055, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln707*) in the MYLK gene. This variant occurs in the long isoform of MYLK (PMID: 21055718). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in the long isoform of MYLK cause disease. |
| Fulgent Genetics, |
RCV002480290 | SCV002778374 | uncertain significance | Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 2021-08-09 | criteria provided, single submitter | clinical testing |