ClinVar Miner

Submissions for variant NM_080473.5(GATA5):c.83C>T (p.Ala28Val)

gnomAD frequency: 0.00038  dbSNP: rs112701160
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
GeneDx RCV001550565 SCV001770906 uncertain significance not provided 2024-06-11 criteria provided, single submitter clinical testing Has not been previously reported as pathogenic or benign in association with a GATA5-related disorder to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23040494)
Labcorp Genetics (formerly Invitae), Labcorp RCV001550565 SCV002190771 uncertain significance not provided 2025-01-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 28 of the GATA5 protein (p.Ala28Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with GATA5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1190007). 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 tolerated. 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.
Revvity Omics, Revvity RCV003132517 SCV003808630 uncertain significance Congenital heart defects, multiple types, 5 2022-11-08 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.