ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) (rs146228576)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182534 SCV000234882 uncertain significance not provided 2018-05-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH11 gene. The R1862H variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 127/277052 (0.05%) alleles from individuals of multiple ethnic backgrounds, including 90/10148 (0.9%) Ashkenazi Jewish alleles, in large population cohorts (Lek et al., 2016). The R1862H variant has also been identified independently and/or in conjunction with additional cardiogenetic variants in multiple individuals referred for cardiogenetic testing at GeneDx. So far, segregation data is limited or absent for these individuals. The R1862H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Nevertheless, in silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Illumina Clinical Services Laboratory,Illumina RCV000280640 SCV000395200 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461294 SCV000543722 benign Aortic aneurysm, familial thoracic 4 2017-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617240 SCV000739196 uncertain significance Cardiovascular phenotype 2016-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Color RCV000776147 SCV000911145 benign Thoracic aortic aneurysm and aortic dissection 2018-04-07 criteria provided, single submitter clinical testing

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