ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1959_1960del (p.Pro655fs) (rs1429181351)

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
Ambry Genetics RCV000623566 SCV000741015 pathogenic Inborn genetic diseases 2015-08-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853306 SCV000996150 likely pathogenic MUCOLIPIDOSIS III ALPHA/BETA 2018-05-25 criteria provided, single submitter clinical testing This frameshifting variant in exon 13 of 21 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is present in the heterozygous state in the gnomAD population database at a frequency of 0.0004% (1/246184) and thus is presumed to be rare. Based on the available evidence, the c.1959_1960delTA (p.Pro655HisfsTer12) variant is classified as likely pathogenic.

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.