ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=) (rs61935741)

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
Illumina Clinical Services Laboratory,Illumina RCV000369475 SCV000375398 uncertain significance I cell disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402774 SCV000375399 uncertain significance Mucolipidosis, Type III Alpha/Beta 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588391 SCV000699480 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing Variant summary: The c.3216A>G (p.Pro1072=) in GNPTAB gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in control datasets of ExAC and gnomAD at a low frequency of 0.00009 and 0.0001 (11/66734 and 35/ 277174 chrs tested, respectively) predominantly in individuals of European ancestry (0.00015; 10/66734 and 0.00024; 30/126670 respectively). These individual frequencies do not exceed the estimated maximum allele frequency for a pathogenic allele in this gene (0.0022). The variant of interest has not, to our knowledge, been reported in affected individuals via published reports, but is sited as VUS by a reputable database/clinical laboratory. Taking together, the variant was classified as VUS-Possible Benign.

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.