ClinVar Miner

Submissions for variant NM_031372.4(HNRNPDL):c.110A>C (p.Gln37Pro)

gnomAD frequency: 0.00062  dbSNP: rs911762606
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000540408 SCV000638829 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1G 2025-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023980 SCV003689515 uncertain significance not specified 2021-07-19 criteria provided, single submitter clinical testing The c.110A>C (p.Q37P) alteration is located in exon 1 (coding exon 1) of the HNRNPDL gene. This alteration results from a A to C substitution at nucleotide position 110, causing the glutamine (Q) at amino acid position 37 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000540408 SCV003808732 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1G 2022-01-13 criteria provided, single submitter 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.