ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2272C>A (p.Pro758Thr)

gnomAD frequency: 0.00004  dbSNP: rs147056835
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183275 SCV001348963 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003629166 SCV004402599 uncertain significance Aortic aneurysm, familial thoracic 4 2023-11-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 765 of the MYH11 protein (p.Pro765Thr). This variant is present in population databases (rs147056835, gnomAD 0.06%). This missense change has been observed in individual(s) with clinical features of thoracic aortic aneurysm and dissection (PMID: 34498425). This variant is also known as NM_002474:c.2272C>A (p.Pro758Thr). ClinVar contains an entry for this variant (Variation ID: 922925). 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) performed at Invitae indicates that this missense variant is not expected to disrupt MYH11 protein function with a negative predictive value of 95%. 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.

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