Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV001093598 | SCV001245068 | likely pathogenic | Visceral myopathy 1 | 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). |