ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.674G>A (p.Trp225Ter) (rs1553493553)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr Meenakshi Bhat Group,Centre for Human Genetics RCV000504570 SCV000598568 uncertain significance Chromosome 2q32-q33 deletion syndrome 2017-08-15 criteria provided, single submitter clinical testing The heterozygous nonsense variant [c.674G>A; p.Trp225*] in the exon 6 of the SATB2 gene. Stop gain mutation leads to loss of normal protein function through early truncation and hence this mutation could be the likely cause of clinical condition.
GeneDx RCV000760865 SCV000890761 pathogenic not provided 2018-11-23 criteria provided, single submitter clinical testing The W225X nonsense variant in the SATB2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W225X variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been reported previously to our knowledge, its presence is consistent with the diagnosis of SATB2-associated syndrome in this individual.

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