ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val)

gnomAD frequency: 0.00022  dbSNP: rs141329633
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000967688 SCV001115095 likely benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001112931 SCV001270646 uncertain significance Mucolipidosis type II 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001112932 SCV001270647 uncertain significance Pseudo-Hurler polydystrophy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV003332274 SCV004039725 uncertain significance not provided 2023-09-30 criteria provided, single submitter clinical testing Reported in association with mucolipidosis; however, detailed clinical information was not provided (PMID: 30882951); Functional studies suggest a reduction of enzymatic activity for the F24V mutant; however, it is unclear whether the reduction is significant for pathogenicity (PMID: 32220096); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26130485, 30882951, 32220096)
Natera, Inc. RCV001112931 SCV001455409 likely benign Mucolipidosis type II 2020-04-17 no assertion criteria provided clinical testing

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.