ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1135del (p.Gln379fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, National Institute of Health RCV004723555 SCV004804652 pathogenic Chromosome 2q32-q33 deletion syndrome 2024-03-27 criteria provided, single submitter clinical testing SATB2(NM_001172509.2):c.1135del(p.Gln379Lysfs*34) was identified via NGS in a female patient presenting typical Glass syndrome. Segregation analysis revealed this variant is de novo. It's classified as Pathogenic according to ACMG guidelines.

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