ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.348C>A (p.Phe116Leu)

dbSNP: rs1222501717
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000530962 SCV000638788 uncertain significance Nemaline myopathy 6 2017-05-05 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 116 of the KBTBD13 protein (p.Phe116Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. 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 individuals with a KBTBD13-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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. 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.