ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn)

dbSNP: rs2071413817
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175581 SCV001339214 uncertain significance not specified 2020-03-04 criteria provided, single submitter clinical testing Variant summary: ATRX c.1212G>C (p.Lys404Asn) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 182880 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1212G>C in individuals affected with Mental retardation-hypotonic facies syndrome X-linked, 1 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001345479 SCV001539599 benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001562548 SCV001785328 uncertain significance not provided 2024-07-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001345479 SCV002087369 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-07-17 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. 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.