ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5732C>G (p.Thr1911Arg)

dbSNP: rs748516947
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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 RCV001054167 SCV001218469 uncertain significance Aortic aneurysm, familial thoracic 4 2019-02-12 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MYH11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with arginine at codon 1918 of the MYH11 protein (p.Thr1918Arg). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and arginine.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001290570 SCV001478646 uncertain significance not specified 2021-01-28 criteria provided, single submitter clinical testing Variant summary: MYH11 c.5753C>G (p.Thr1918Arg) results in a non-conservative amino acid change located in the Myosin tail domain (IPR002928) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251046 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5753C>G in individuals affected with Thoracic Aortic Aneurysms And Dissections and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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