ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.37G>C (p.Ala13Pro) (rs747356389)

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
Invitae RCV000464454 SCV000545964 uncertain significance Baller-Gerold syndrome 2017-06-08 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 13 of the RECQL4 protein (p.Ala13Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a RECQL4-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably_damaging"; Align-GVGD: "Class 0"). In summary, this variant is a novel missense change with uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance.

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.