ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.272C>T (p.Ala91Val)

dbSNP: rs1555459204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641588 SCV000763230 uncertain significance Aortic aneurysm, familial thoracic 4 2017-11-12 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYH11-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces alanine with valine at codon 91 of the MYH11 protein (p.Ala91Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
Color Diagnostics, LLC DBA Color Health RCV001524938 SCV001734919 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-01-05 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 91 of the MYH11 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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