ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter)

dbSNP: rs794727176
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724287 SCV000226528 pathogenic not provided 2014-09-23 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV003231356 SCV000782184 pathogenic Sotos syndrome 2016-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763136 SCV000893696 pathogenic Acute myeloid leukemia; Sotos syndrome 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724287 SCV001500865 pathogenic not provided 2020-08-01 criteria provided, single submitter clinical testing
Invitae RCV003231356 SCV001588171 pathogenic Sotos syndrome 2021-08-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231356 SCV002054950 pathogenic Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
3billion RCV003231356 SCV002059110 pathogenic Sotos syndrome 2022-01-03 criteria provided, single submitter clinical testing The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000194672, PMID:12464997). 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 not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002273973 SCV002559012 pathogenic Neurodevelopmental delay criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003231356 SCV003824210 pathogenic Sotos syndrome 2022-12-21 criteria provided, single submitter clinical testing

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