ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.823C>T (p.Pro275Ser)

gnomAD frequency: 0.00002  dbSNP: rs756325364
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
Invitae RCV003558612 SCV004295696 pathogenic not provided 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 275 of the HPS6 protein (p.Pro275Ser). This variant is present in population databases (rs756325364, gnomAD 0.01%). This missense change has been observed in individual(s) with Hermansky–Pudlak syndrome (PMID: 26575419). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 690344). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt HPS6 protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
University of Washington Center for Mendelian Genomics, University of Washington RCV000851270 SCV000993526 likely pathogenic Hermansky-Pudlak syndrome 2015-12-18 no assertion criteria provided research

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.