ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.6088G>C (p.Val2030Leu)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV002577284 SCV002930586 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2030 of the FREM2 protein (p.Val2030Leu). This variant is present in population databases (rs116046652, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with FREM2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002577285 SCV003756418 uncertain significance Inborn genetic diseases 2022-06-27 criteria provided, single submitter clinical testing The c.6088G>C (p.V2030L) alteration is located in exon 7 (coding exon 7) of the FREM2 gene. This alteration results from a G to C substitution at nucleotide position 6088, causing the valine (V) at amino acid position 2030 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002577284 SCV005377133 uncertain significance not provided 2023-11-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Fulgent Genetics, Fulgent Genetics RCV005008620 SCV005634793 uncertain significance Isolated cryptophthalmia; Fraser syndrome 2 2024-02-06 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.