ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.308C>T (p.Pro103Leu) (rs199543866)

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
Invitae RCV000726717 SCV000288254 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000726717 SCV000619608 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing The P103L variant in the RECQL4 gene has been reported previously in the heterozygous state in an individual with a diagnosis of Rothmund-Thomson syndrome, but no second variant in RECQL4 was identified in this individual (Wang et al., 2003). The P103L variant is observed in 137/125,440 (0.1%) alleles from individuals of non-Finnish European background in large population cohorts (Lek et al., 2016). The P103L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret P103L as a variant of uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726717 SCV000702395 uncertain significance not provided 2016-10-20 criteria provided, single submitter clinical testing
Mendelics RCV000988132 SCV001137731 uncertain significance Baller-Gerold syndrome 2019-05-28 criteria provided, single submitter 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.