ClinVar Miner

Submissions for variant NM_003107.3(SOX4):c.1333G>T (p.Glu445Ter)

dbSNP: rs2532642024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004721158 SCV005328339 pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect; specifically showing the p.E445X variant causes a truncated protein with high stability, but reduced transactivation with dominant negative effect (Angelozzi et al., 2022); Nonsense variant predicted to result in protein truncation as the last 30 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35232796)
OMIM RCV003152402 SCV003840993 pathogenic Coffin-Siris syndrome 10 2023-02-02 no assertion criteria provided literature only

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