ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.283G>A (p.Glu95Lys)

dbSNP: rs869312672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209912 SCV000265522 likely pathogenic Cornelia de Lange syndrome 3 2014-08-14 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017489 SCV004847948 likely pathogenic De Lange syndrome 2015-04-17 criteria provided, single submitter clinical testing The p.Glu95Lys variant in SMC3 has been previously reported as a de novo occurrence in 1 individual with moderate ID and speech delay (pers. comm). It was absent from large population studies. Computational prediction tools and conservation analysis suggest that the p.Glu95Lys variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although additional studies are required to fully establish its clinical significance, the p.Glu95Lys variant is likely pathogenic.

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