ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.793_795del (p.Glu265del) (rs1602413408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000999456 SCV001156069 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000999456 SCV001245515 pathogenic not provided 2019-12-24 criteria provided, single submitter clinical testing The c.793_795delGAG variant in the SMC1A gene has been observed in the mosaic state in GeneDx sequencing data in association with global developmental delay, short stature, microcephaly, and dysmorphic features. The c.793_795delGAG variant causes an in-frame deletion of one amino acid in a non-repeat region. In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. The c.793_795delGAG variant is not observed in large population cohorts (Lek et al., 2016). Therefore, we interpret c.793_795delGAG as a pathogenic variant.

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