ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) (rs587784177)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146906 SCV000194235 pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000290468 SCV000329438 pathogenic not provided 2016-03-04 criteria provided, single submitter clinical testing The R2017Q missense mutation in the NSD1 gene has been reported previously in association with Sotos syndrome (Douglas et al., 2003; Tatton-Brown et al., 2005). The mutation alters an amino acid residue in the highly conserved SET domain of the protein.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415049 SCV000493005 likely pathogenic Hypertelorism; Global developmental delay; Scoliosis; Hypoplasia of the corpus callosum; Delayed speech and language development; Delayed gross motor development; High anterior hairline 2014-05-14 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414978 SCV000493045 likely pathogenic Preeclampsia; Tall stature; Overgrowth; Pointed chin; Delayed speech and language development; Macrocephalus; High forehead; Osteopenia; Increased body weight 2013-12-13 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000146906 SCV000782188 pathogenic Sotos syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000146906 SCV000999348 pathogenic Sotos syndrome 1 criteria provided, single submitter clinical testing
Invitae RCV001070386 SCV001235613 pathogenic Beckwith-Wiedemann syndrome 2019-11-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 2017 of the NSD1 protein (p.Arg2017Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Sotos syndrome (PMID: 17565729, 27834868). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 159398). This variant has been reported to affect NSD1 protein function (PMID: 21196496). This variant disrupts the p.Arg2017 amino acid residue in NSD1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12807965, 15942875, 26690673, 24412544). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196662 SCV001367283 likely pathogenic Hypertelorism; Tricuspid atresia (disease); Global developmental delay; Scoliosis; Hypoplasia of the corpus callosum; Delayed speech and language development; Delayed gross motor development; High anterior hairline; Delayed fine motor development; Pulmonary valve atresia 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198555 SCV001369541 likely pathogenic Preeclampsia; Tall stature; Overgrowth; Pointed chin; Delayed speech and language development; Macrocephalus; High forehead; Osteopenia; Increased body weight; Sparse anterior scalp hair 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. This variant was detected in heterozygous state.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.