ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1204_1206del (p.Lys402del)

dbSNP: rs1467732394
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
Myriad Genetics, Inc. RCV000670353 SCV002060216 uncertain significance Tay-Sachs disease 2021-11-16 criteria provided, single submitter clinical testing NM_000520.4(HEXA):c.1204_1206delAAG(K402del) is an in-frame deletion variant classified as a variant of uncertain significance in the context of hexosaminidase A deficiency. K402del has not been observed in cases with relevant disease. Functional assessments of this variant are not available in the literature. K402del has been observed in population frequency databases (gnomAD: NFE <0.001%). In summary, there is insufficient evidence to classify NM_000520.4(HEXA):c.1204_1206delAAG(K402del) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.
Invitae RCV000670353 SCV003442960 uncertain significance Tay-Sachs disease 2022-03-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 554678). This variant has been observed in individual(s) with Tay-Sachs disease (PMID: 9150157). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant, c.1204_1206del, results in the deletion of 1 amino acid(s) of the HEXA protein (p.Lys402del), but otherwise preserves the integrity of the reading frame. 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.