ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.272G>C (p.Cys91Ser)

dbSNP: rs1057518709
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000415095 SCV005834473 uncertain significance Sandhoff disease 2024-09-29 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 91 of the HEXB protein (p.Cys91Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with Sandhoff disease (PMID: 27391121, 35568357). ClinVar contains an entry for this variant (Variation ID: 374340). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on HEXB protein function. 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.
Baylor Genetics RCV000415095 SCV000328821 uncertain significance Sandhoff disease 2015-01-15 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in HEXB (NM_000521.3,c.272G>C ) and MCCC2 (NM_022132.4, c.1015G>A) in one individual with reported features of neuromuscular disease, chronic respiratory failure, cardiomyopathy and hypertension.

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.