ClinVar Miner

Submissions for variant NM_004357.5(CD151):c.241G>A (p.Ala81Thr)

gnomAD frequency: 0.00036  dbSNP: rs141569440
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936080 SCV002198245 uncertain significance not provided 2025-01-12 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 81 of the CD151 protein (p.Ala81Thr). This variant is present in population databases (rs141569440, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CD151-related conditions. ClinVar contains an entry for this variant (Variation ID: 1428000). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002484608 SCV002786099 uncertain significance Epidermolysis bullosa simplex 7, with nephropathy and deafness; RAPH BLOOD GROUP SYSTEM 2023-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002560580 SCV003528655 uncertain significance Inborn genetic diseases 2024-04-12 criteria provided, single submitter clinical testing The c.241G>A (p.A81T) alteration is located in exon 4 (coding exon 2) of the CD151 gene. This alteration results from a G to A substitution at nucleotide position 241, causing the alanine (A) at amino acid position 81 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001936080 SCV003829374 uncertain significance not provided 2022-07-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001936080 SCV004128682 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing CD151: PP3

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.