ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.134A>C (p.Gln45Pro)

gnomAD frequency: 0.00001  dbSNP: rs144089645
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
Counsyl RCV000670561 SCV000795424 uncertain significance Tay-Sachs disease 2017-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670561 SCV000953792 uncertain significance Tay-Sachs disease 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 45 of the HEXA protein (p.Gln45Pro). This variant is present in population databases (rs144089645, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with HEXA-related conditions. ClinVar contains an entry for this variant (Variation ID: 554858). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
Genome-Nilou Lab RCV000670561 SCV001712336 uncertain significance Tay-Sachs disease 2021-05-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000670561 SCV003810786 uncertain significance Tay-Sachs disease 2021-11-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000670561 SCV001461912 uncertain significance Tay-Sachs disease 2018-05-22 no assertion criteria provided 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.