ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3611C>T (p.Ala1204Val)

gnomAD frequency: 0.00008  dbSNP: rs772621139
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182469 SCV000234814 uncertain significance not provided 2021-07-13 criteria provided, single submitter clinical testing Reported in an individual with TAAD who was found to harbor a second MYH11 variant (phase unknown) (Gago-Diaz et al, 2017); Reported in ClinVar (ClinVar Variant ID# 201028; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26582918, 27535533, 28391405)
Labcorp Genetics (formerly Invitae), Labcorp RCV000547704 SCV000641029 uncertain significance Aortic aneurysm, familial thoracic 4 2024-10-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1211 of the MYH11 protein (p.Ala1211Val). This variant is present in population databases (rs772621139, gnomAD 0.05%). This missense change has been observed in individual(s) with autosomal dominant MYH11-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 201028). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.
Ambry Genetics RCV001184235 SCV000738346 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-09-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV001184235 SCV001350176 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000182469 SCV003817166 uncertain significance not provided 2021-12-23 criteria provided, single submitter clinical testing

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