ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg) (rs534983279)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507867 SCV000604341 uncertain significance not specified 2016-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000705273 SCV000896503 uncertain significance Aortic aneurysm, familial thoracic 4 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284825 SCV000395246 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337481 SCV000395247 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000705273 SCV000834262 uncertain significance Aortic aneurysm, familial thoracic 4 2018-03-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 1604 of the MYH11 protein (p.Gln1604Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs534983279, ExAC 0.01%). This variant has not been reported in the literature in individuals with MYH11-related disease. ClinVar contains an entry for this variant (Variation ID: 318109). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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