ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) (rs28942071)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169084 SCV000220258 likely pathogenic Tay-Sachs disease 2014-04-18 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000169084 SCV000917511 pathogenic Tay-Sachs disease 2017-09-18 criteria provided, single submitter clinical testing Variant summary: The HEXA c.1510C>T (p.Arg504Cys) variant causes a missense change involving the alteration of a conserved nucleotide located in the Glycoside hydrolase superfamily domain (IPR017853) (InterPro). 5/5 in silico tools predict a damaging outcome for this variant. One functional study confirmed these predictions by finding no enzymatic activity associated with this variant (Paw_1991). The variant was found in the control population dataset of ExAC in 2/121476 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic HEXA variant (0.0013975). This variant was reported in multiple patients with Tay-Sachs disease, as a homozygous allele (Akli_1991) and in compound heterozygosity with c.805G>A (p.G269S)(pathogenic in our internal database), c.615delG (p.V206X)(not in our internal database, not in HGMD/ClinVar), and c.346+1G>A (not in our internal database, DM in HGMD)(Neudorfer_2005, Montalvo_2005, Akli_1991). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely pathogenic/pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000004112 SCV000024278 pathogenic Gm2-gangliosidosis, chronic 1991-09-01 no assertion criteria provided literature only

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.