Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV003231293 | SCV000194231 | pathogenic | Sotos syndrome | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000255064 | SCV000322461 | pathogenic | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 15942875, 28475857, 33084842, 14571271, 34008892) |
Labcorp Genetics |
RCV000255064 | SCV000828105 | pathogenic | not provided | 2019-10-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12464997, 14571271, 15942875, 16247291). This variant has been reported to be de novo in an individual affected with Sotos syndrome (PMID: 14571271). This variant has been observed in individuals affected with learning disability, overgrowth, and/or sacrococcygeal teratoma (PMID: 15942875, 28475857). ClinVar contains an entry for this variant (Variation ID: 159394). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg2005*) in the NSD1 gene. It is expected to result in an absent or disrupted protein product. |
Laboratory of Medical Genetics, |
RCV003231293 | SCV000928345 | pathogenic | Sotos syndrome | 2018-02-15 | criteria provided, single submitter | clinical testing | PVS1, PM1, PM2, PP3, PP5 |
Revvity Omics, |
RCV003231293 | SCV002020557 | pathogenic | Sotos syndrome | 2020-11-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003231293 | SCV002054961 | pathogenic | Sotos syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV003231293 | SCV002579166 | pathogenic | Sotos syndrome | 2022-05-06 | criteria provided, single submitter | clinical testing | |
Neuberg Centre For Genomic Medicine, |
RCV003231293 | SCV005060902 | pathogenic | Sotos syndrome | criteria provided, single submitter | clinical testing | The observed stop gained variant c.6013C>T(p.Arg2005Ter) in NSD1 gene has been reported previously in heterozygous state in multiple individuals with Sotos syndorme (Tatton-Brown K, et al., 2017; 2005, Türkmen S, et al., 2003). The variant c.6013C>T is absent in gnomAD Exomes. This variant has been reported to the ClinVar database as Likely Pathogenic/Pathogenic (multiple submissions). This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic. | |
Genomics England Pilot Project, |
RCV003231293 | SCV001760159 | likely pathogenic | Sotos syndrome | no assertion criteria provided | clinical testing |