ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5406C>G (p.His1802Gln) (rs746211825)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000357063 SCV000395216 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259812 SCV000395217 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000641576 SCV000763218 uncertain significance Aortic aneurysm, familial thoracic 4 2017-08-23 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 1809 of the MYH11 protein (p.His1809Gln). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs746211825, ExAC 0.008%). This variant has not been reported in the literature in individuals with MYH11-related disease. ClinVar contains an entry for this variant (Variation ID: 318095). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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