ClinVar Miner

Submissions for variant NM_001615.4(ACTG2):c.589_613+163del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001093598 SCV001245068 likely pathogenic Visceral myopathy 2019-10-30 criteria provided, single submitter clinical testing An apparently homozygous deletion of 187 bp (chr2:74140750-74140936x0) located at 2p12 and affecting a single gene, ACTG2, was detected in this individual. The deletion includes part of exon 6 out of 9 of the ACTG2 gene. Pathgenic alterations in ACTG2, which encodes gamma 2 enteric actin, are associated with autosomal dominant Visceral myopathy (OMIM: #155310).

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