ClinVar Miner

Submissions for variant NM_145868.2(ANXA11):c.190A>G (p.Thr64Ala)

gnomAD frequency: 0.00001  dbSNP: rs775879177
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002655131 SCV003526047 uncertain significance Inborn genetic diseases 2022-07-06 criteria provided, single submitter clinical testing The c.190A>G (p.T64A) alteration is located in exon 4 (coding exon 3) of the ANXA11 gene. This alteration results from a A to G substitution at nucleotide position 190, causing the threonine (T) at amino acid position 64 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003427587 SCV004118595 uncertain significance ANXA11-related disorder 2023-09-18 criteria provided, single submitter clinical testing The ANXA11 c.190A>G variant is predicted to result in the amino acid substitution p.Thr64Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0099% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-81929096-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003546863 SCV004271045 uncertain significance not provided 2023-07-25 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 64 of the ANXA11 protein (p.Thr64Ala). This variant is present in population databases (rs775879177, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ANXA11-related conditions. ClinVar contains an entry for this variant (Variation ID: 2208441). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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.