ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.554del (p.Glu185fs)

dbSNP: rs2105865877
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001882983 SCV002139257 pathogenic Chromosome 2q32-q33 deletion syndrome 2021-02-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with SATB2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu185Glyfs*2) in the SATB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SATB2 are known to be pathogenic (PMID: 25885067).

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