ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5887G>A (p.Ala1963Thr) (rs146413415)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486651 SCV000566600 uncertain significance not provided 2018-08-14 criteria provided, single submitter clinical testing The A1963T variant of uncertain significance in the MYH11 gene has not been published as pathogenic or been reported as benign to our knowledge. While A1963T has been identified independently in two individuals referred for connective tissue genetic testing at GeneDx, segregation data is limited or absent for these individuals due to the lack of clinical information provided and/or insufficient participation by informative family members. The A1963T variant was observed in 11/277,202 (0.004%) alleles from individuals of varying ancestral backgrounds in large population cohorts (Lek et al., 2016). A1963T is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Furthermore, no pathogenic missense variants in nearby residues have been reported in the Human Gene Mutation Database (Stenson et al., 2014).Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Color RCV001189159 SCV001356389 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-09-12 criteria provided, single submitter clinical testing

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