ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.7908C>T (p.Leu2636=)

gnomAD frequency: 0.00025  dbSNP: rs143159630
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001573816 SCV005222560 likely benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV001573816 SCV004158102 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing NSD1: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV003231339 SCV002798771 likely benign Sotos syndrome 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231339 SCV002054891 benign Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316944 SCV000850113 likely benign Inborn genetic diseases 2016-07-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001573816 SCV000749508 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000146954 SCV000513990 benign not specified 2015-03-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000146954 SCV000228077 benign not specified 2015-08-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146954 SCV000194289 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952704 SCV004775017 benign NSD1-related disorder 2022-08-03 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573816 SCV001966301 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001573816 SCV001954025 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573816 SCV001800215 likely benign not provided no assertion criteria provided clinical testing

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.