ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4578+5G>C (rs1555552121)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598736 SCV000710551 uncertain significance not specified 2018-02-12 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH11 gene. The c.4578+5 G>C variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). In silico splice algorithms predict this variant may lead to reduced efficiency of the intron 32 splice donor site and impact normal gene splicing. Other variants affecting the same splice donor site (c.4578+1G>T, c.4578+1G>A) have been reported in the Human Gene Mutation Database (Stenson et al., 2014), in association with TAAD. However, in the absence of functional mRNA studies, the physiological consequence of the c.4578+5 G>C variant cannot be precisely determined.

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