ClinVar Miner

Submissions for variant NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe)

dbSNP: rs1569507511
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000754379 SCV000786614 likely pathogenic not provided 2020-05-22 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect impairing TGN pH homeostasis and glycosylation of exported cargo (Khayat et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30335141)
SIB Swiss Institute of Bioinformatics RCV000766217 SCV000996434 likely pathogenic Intellectual developmental disorder, X-linked 108 2019-07-22 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Intellectual developmental disorder, X-linked 108. The following ACMG Tag(s) were applied: PM2, PS3-Moderate, PP1-Strong.
Sydney Children's Hospital, SCHN RCV000754991 SCV000803662 likely pathogenic SLC9A7-related neurodevelopmental disorder 2018-06-11 no assertion criteria provided research
OMIM RCV000766217 SCV000897695 pathogenic Intellectual developmental disorder, X-linked 108 2019-04-08 no assertion criteria provided literature only

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.