Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001224955 | SCV001397185 | uncertain significance | Aortic aneurysm, familial thoracic 7 | 2019-05-27 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals with MYLK-related conditions. This variant is present in population databases (rs771619672, ExAC 0.003%). This sequence change replaces glutamic acid with glycine at codon 1434 of the MYLK protein (p.Glu1434Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. |
ARUP Laboratories, |
RCV003737029 | SCV004563491 | uncertain significance | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | The MYLK c.4301A>G; p.Glu1434Gly variant (rs771619672), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 952780). This variant is only observed on two alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.169). Due to limited information, the clinical significance of this variant is uncertain at this time. |