ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.491dup (p.Leu164fs)

dbSNP: rs1350528661
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001342343 SCV001536270 uncertain significance Hermansky-Pudlak syndrome 9 2021-10-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BLOC1S6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the BLOC1S6 gene (p.Leu164Phefs*33). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 9 amino acids of the BLOC1S6 protein and extend the protein by an additional 23 amino acids. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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.