ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.402del (p.Gly135fs)

dbSNP: rs761248518
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001564670 SCV001787869 pathogenic not provided 2020-05-05 criteria provided, single submitter clinical testing Published functional studies demonstrate reduced transactivation activity (Suzuki et al., 2014); Frameshift variant predicted to result in protein truncation, as the last 183 amino acids are replaced with 18 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 24804704)
Anophthalmia/Microphthalmia Research Registry, Einstein Medical Center Philadelphia RCV001267864 SCV001446350 pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome no assertion criteria provided research Patient has symptoms similar to SOX2 related disease and is suspected to be pathogenic

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