ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) (rs201711375)

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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514093 SCV000609543 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623865 SCV000740789 uncertain significance Inborn genetic diseases 2015-01-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Invitae RCV000699009 SCV000827702 uncertain significance Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2020-06-19 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 57 of the AIFM1 protein (p.Ser57Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs201711375, ExAC 0.02%). This variant has not been reported in the literature in individuals with AIFM1-related disease. ClinVar contains an entry for this variant (Variation ID: 445310). 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: Benign; Align-GVGD: Class C1). 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. 5
Fulgent Genetics,Fulgent Genetics RCV000766070 SCV000897542 uncertain significance Cowchock syndrome; Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6 2018-10-31 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.