ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.250G>T (p.Glu84Ter)

gnomAD frequency: 0.00001  dbSNP: rs756632799
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV000210929 SCV002012079 pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3 2021-10-02 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000159, PM2). The variant was observed in trans with a pathogenic variant (NM_015937.5:c.1342C>T) as compound heterozygous (3billion dataset, PM3). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Revvity Omics, Revvity RCV001782700 SCV002018805 pathogenic not provided 2019-11-21 criteria provided, single submitter clinical testing
OMIM RCV000210929 SCV000267596 pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3 2016-04-25 no assertion criteria provided literature only

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