ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.570T>G (p.Pro190=)

gnomAD frequency: 0.00009  dbSNP: rs188831993
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078967 SCV000110832 benign not specified 2016-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000559903 SCV000639897 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316224 SCV000849955 likely benign Inborn genetic diseases 2016-04-08 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.
GeneDx RCV001610357 SCV001841701 benign not provided 2019-07-15 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224136 SCV003920326 likely benign Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 2022-09-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.08% (9/10567) including 5 hemizygotes (https://gnomad.broadinstitute.org/variant/X-77688842-A-C?dataset=gnomad_r3). This variant is present in ClinVar, with several labs classifying this variant as Benign or Likely Benign (Variation ID:93142). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.

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.