ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.701-2A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV004942965 SCV005619921 pathogenic Chromosome 2q32-q33 deletion syndrome 2025-01-09 criteria provided, single submitter clinical testing PVS1: Splicing +-2 bp (donor or acceptor) variant, LoF is a know mechanism of disease, Cryptic splice site detected, with MaxEntScore 4.6, offset of 50, new splice context is: actattgtgttctgggccAGcgt. Cryptic site results in frameshift change. If cryptic site found is not functional and variant results in exon loss, it results in frameshift change. PM2_sup: absent from controls PS2: de novo in our case

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