Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231427 | SCV000291205 | uncertain significance | Aortic aneurysm, familial thoracic 7 | 2023-09-25 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 175 of the MYLK protein (p.Gly175Val). This variant is present in population databases (rs375456836, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MYLK-related conditions. ClinVar contains an entry for this variant (Variation ID: 241763). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
Ce |
RCV001093173 | SCV001250027 | uncertain significance | not provided | 2019-10-01 | criteria provided, single submitter | clinical testing | |
Ai |
RCV001093173 | SCV002501694 | uncertain significance | not provided | 2022-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002338761 | SCV002643317 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-02-08 | criteria provided, single submitter | clinical testing | The p.G175V variant (also known as c.524G>T), located in coding exon 4 of the MYLK gene, results from a G to T substitution at nucleotide position 524. The glycine at codon 175 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002500817 | SCV002815018 | uncertain significance | Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 2021-08-03 | criteria provided, single submitter | clinical testing |