ClinVar Miner

Submissions for variant NC_000020.11:g.36548744_36555707del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, State University of Campinas RCV000625523 SCV000598634 likely pathogenic Visceral myopathy 1 2017-08-31 no assertion criteria provided research The entire MYL9 exon 4 is deleted (the last coding exon of this gene). MYL9 is a gene with a crucial role in smooth muscle contraction and is closely related to the genes previously associated with the megacystis-microcolon-hypoperistalsis syndrome - MMIHS (ACTG2, MYH11, LMOD1 and MYLK). Besides, according to different databases (GeneCard - http://www.genecards.org and Expression Atlas - https://www.ebi.ac.uk/gxa/home), tissues like urinary bladder and colon, clearly affected in MMIHS, have a high mRNA and protein expression level of MYL9.

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