ClinVar Miner

Submissions for variant NM_001615.4(ACTG2):c.593G>A (p.Gly198Asp)

dbSNP: rs864309492
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000202479 SCV000256738 pathogenic Visceral myopathy 1 2014-03-27 criteria provided, single submitter research
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000202479 SCV000996057 pathogenic Visceral myopathy 1 2017-02-17 criteria provided, single submitter clinical testing The c.593G>A (p.Gly198Asp) variant is a missense variant in the ACTG2 gene. This variant has a previously reported in a patient with megacystis-microcolon-intestinal hypoperistalsis syndrome (PMID: 24676022). This variant is not seen in ExAC database thus it is presumed to be rare. This variant is predicted to be damaging based on in silico modeling. No functional studies exist for this particular variant. Based on the combined evidence and the variant being de novo in this patient, the variant is classified as pathogenic.

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