ClinVar Miner

Submissions for variant NM_001040113.2(MYH11):c.5828C>T (p.Thr1943Ile)

dbSNP: rs2151173196
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001916949 SCV002196225 uncertain significance Aortic aneurysm, familial thoracic 4 2021-10-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MYH11-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 1943 of the MYH11 protein (p.Thr1943Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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