ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3419A>C (p.Lys1140Thr) (rs1374316194)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768093 SCV000898985 uncertain significance Fanconi anemia, complementation group P 2018-10-15 criteria provided, single submitter clinical testing SLX4 NM_032444.2 exon 12 p.Lys1140Thr (c.3419A>C): This variant has not been reported in the literature and is not present in large control databases. This variant amino acid Threonine (Thr) is present in four species (Tibetan antelope, cow, sheep, goat) and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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.