ClinVar Miner

Submissions for variant NM_205768.3(ZBTB18):c.579G>A (p.Trp193Ter)

dbSNP: rs2148556497
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808296 SCV002058967 pathogenic Intellectual disability, autosomal dominant 22 2022-01-03 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_VS). The variant has been reported to be associated with ZBTB18 related disorder (PMID:29573576). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). The variant was observed to be de novo (3billion dataset, PS2_S). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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