ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.980C>A (p.Ala327Asp)

gnomAD frequency: 0.00044  dbSNP: rs147724274
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000362850 SCV000408827 uncertain significance Dyggve-Melchior-Clausen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272862 SCV000408828 uncertain significance Smith-McCort dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859923 SCV002298702 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 327 of the DYM protein (p.Ala327Asp). This variant is present in population databases (rs147724274, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with DYM-related conditions. ClinVar contains an entry for this variant (Variation ID: 326898). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DYM protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002521165 SCV003681131 uncertain significance Inborn genetic diseases 2022-08-31 criteria provided, single submitter clinical testing The c.980C>A (p.A327D) alteration is located in exon 10 (coding exon 9) of the DYM gene. This alteration results from a C to A substitution at nucleotide position 980, causing the alanine (A) at amino acid position 327 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.