ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3236C>T (p.Ala1079Val)

gnomAD frequency: 0.00001  dbSNP: rs370112084
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438336 SCV000531310 likely benign not specified 2016-08-30 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.
Invitae RCV000869176 SCV001010583 benign Koolen-de Vries syndrome 2021-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168682 SCV003905469 uncertain significance Inborn genetic diseases 2023-02-22 criteria provided, single submitter clinical testing The c.3236C>T (p.A1079V) alteration is located in exon 15 (coding exon 14) of the KANSL1 gene. This alteration results from a C to T substitution at nucleotide position 3236, causing the alanine (A) at amino acid position 1079 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.