ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) (rs370240337)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182520 SCV000234866 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing The A1468V variant of uncertain significance in the MYH11 gene has not been published as pathogenic or been reported as benign to our knowledge. This variant has been identified in two individuals referred for connective tissue disorder genetic testing at GeneDx. So far, segregation data is absent for these individuals due to insufficient participation by informative family members. In addition, this variant is observed in 4/18,870 (0.02%) East Asian alleles and 7/126,712 (0.005%) European (non-Finnish) alleles in large population cohorts (Lek et al., 2016). The A1468V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Finally, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Ambry Genetics RCV000620117 SCV000739183 uncertain significance Cardiovascular phenotype 2016-03-01 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence;In silico models in agreement (benign)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769664 SCV000901072 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-10-20 criteria provided, single submitter clinical testing
Color RCV000769664 SCV001350482 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-10-16 criteria provided, single submitter clinical testing

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