Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003516425 | SCV004299362 | uncertain significance | Aortic aneurysm, familial thoracic 4 | 2024-01-18 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 314 of the MYH11 protein (p.Tyr314Cys). This variant is present in population databases (rs368906359, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MYH11 protein function. 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. |
| Ambry Genetics | RCV004654261 | SCV005139153 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-06-17 | criteria provided, single submitter | clinical testing | The c.920A>G (p.Y307C) alteration is located in exon 9 (coding exon 8) of the MYH11 gene. This alteration results from a A to G substitution at nucleotide position 920, causing the tyrosine (Y) at amino acid position 307 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |